Canonical Allele Identifier: PA2580140466
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2000090
ClinVar RCV Id: RCV002824268
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ser138Thr
CA413502293
NM_001097642.3:c.413G>C