Canonical Allele Identifier: PA645431137
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245946
ClinVar RCV Id: RCV000235629 RCV000789918 RCV000793260 RCV004020923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val38Met
CA10584634
NM_001097642.3:c.112G>A