Canonical Allele Identifier: PA645431245
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246098
ClinVar RCV Id: RCV000236009 RCV000688999 RCV000789850 RCV003388834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg215Trp
CA10584644
NM_001097642.3:c.643C>T