Canonical Allele Identifier: PA341603
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21082
ClinVar RCV Id: RCV000236563 RCV000654844 RCV000789309 RCV002426512 RCV000020172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg75Trp
CA341601
NM_001097642.3:c.223C>T