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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:
CA983833380
Gene: CAVIN1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2085421969
gnomAD v3:
17-42403100-C-T
gnomAD v4:
17-42403100-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42403100C>T , CM000679.2:g.42403100C>T
GRCh38
NC_000017.10:g.40555118C>T , CM000679.1:g.40555118C>T
GRCh37
NC_000017.9:g.37808644C>T
NCBI36
NG_015845.1:g.25221G>A
NG_015845.2:g.25221G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000357037.6:c.*1587G>A
MANE Select
ENSP00000349541.4:n.*1587G>A
ENST00000357037.5:c.*1587G>A
ENSP00000349541.4:n.*1587G>A
NM_012232.5:c.*1587G>A
NP_036364.2:n.*1587G>A
NM_012232.6:c.*1587G>A
MANE Select
NP_036364.2:n.*1587G>A
Search 100 bp 5'
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