Canonical Allele Identifier: PA645431219
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373934
ClinVar RCV Id: RCV000414760 RCV000415205 RCV001199043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Cys168Gly
CA16043600
NM_001097642.3:c.502T>G