Canonical Allele Identifier: PA645431150
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245761
ClinVar RCV Id: RCV000235491 RCV000789296 RCV001068519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp44Cys
CA10584635
NM_001097642.3:c.132G>C
CA413501055
NM_001097642.3:c.132G>T