Canonical Allele Identifier: PA915971876
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637210
ClinVar RCV Id: RCV000789276 RCV002470980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Phe149Ile
CA413502487
NM_001097642.3:c.445T>A