Canonical Allele Identifier: PA645431191
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246096
ClinVar RCV Id: RCV000235814 RCV000466555 RCV000789226 RCV002450732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Gln80Arg
CA10584637
NM_001097642.3:c.239A>G