Canonical Allele Identifier: PA915971422
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637174
ClinVar RCV Id: RCV000789227 RCV003485644 RCV002473134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp3Arg
CA413499276
NM_001097642.3:c.7T>A
CA413499277
NM_001097642.3:c.7T>C