Canonical Allele Identifier: PA915972105
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637574
ClinVar RCV Id: RCV000789821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Phe193Cys
CA413503219
NM_001097642.3:c.578T>G