Canonical Allele Identifier: PA255237
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10434
ClinVar RCV Id: RCV000011179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp133Arg
CA255235
NM_001097642.3:c.397T>C
CA413502175
NM_001097642.3:c.397T>A