Canonical Allele Identifier: PA645431237
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420023
ClinVar RCV Id: RCV000480241 RCV000789819 RCV000809132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val189Gly
CA16621493
NM_001097642.3:c.566T>G