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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:
CA1118429706
Gene: CCN3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1820157412
gnomAD v3:
8-119423574-T-C
gnomAD v4:
8-119423574-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.119423574T>C , CM000670.2:g.119423574T>C
GRCh38
NC_000008.10:g.120435814T>C , CM000670.1:g.120435814T>C
GRCh37
NC_000008.9:g.120504995T>C
NCBI36
NG_009779.1:g.12263T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000259526.4:c.*442T>C
MANE Select
ENSP00000259526.3:n.*442T>C
ENST00000259526.3:c.*442T>C
ENSP00000259526.3:n.*442T>C
NM_002514.3:c.*442T>C
NP_002505.1:n.*442T>C
NM_002514.4:c.*442T>C
MANE Select
NP_002505.1:n.*442T>C
Search 100 bp 5'
Search 100 bp 3'