Canonical Allele Identifier: PA645431201
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234611
ClinVar RCV Id: RCV000216227 RCV000789170 RCV001294422
ClinVar Variation Id: 2085595
ClinVar RCV Id: RCV003005147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Lys124Asn
CA10577658
NM_001097642.3:c.372G>C
CA413502068
NM_001097642.3:c.372G>T