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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA4690655
Gene: CLU
HGNC
NCBI
Linked Data
dbSNP Id:
rs3087554
ExAC:
8:27455442 T / C
gnomAD v2:
8-27455442-T-C
gnomAD v3:
8-27597925-T-C
gnomAD v4:
8-27597925-T-C
MyVariant Identifiers:
chr8:g.27455442T>C (hg19)
chr8:g.27597925T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.27597925T>C , CM000670.2:g.27597925T>C
GRCh38
NC_000008.10:g.27455442T>C , CM000670.1:g.27455442T>C
GRCh37
NC_000008.9:g.27511359T>C
NCBI36
NG_027845.1:g.21886A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000316403.15:c.*316A>G
MANE Select
ENSP00000315130.10:n.*316A>G
ENST00000316403.14:c.*316A>G
ENSP00000315130.10:n.*316A>G
ENST00000405140.7:c.*316A>G
ENSP00000385419.3:n.*316A>G
NM_001831.3:c.*316A>G
NP_001822.3:n.*316A>G
NR_038335.1:n.1987A>G
NR_045494.1:n.1846A>G
XR_949609.1:n.4048T>C
XR_949610.1:n.3361T>C
XR_949611.1:n.4007T>C
NM_001831.4:c.*316A>G
MANE Select
NP_001822.3:n.*316A>G
NR_038335.2:n.1921A>G
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