Canonical Allele Identifier: PA645431258
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393124
ClinVar RCV Id: RCV000423810 RCV001828457 RCV002522718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg220Gln
CA16608986
NM_001097642.3:c.659G>A