Canonical Allele Identifier: PA097991
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 576347
ClinVar RCV Id: RCV000789284 RCV000698825 RCV002249416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu131Pro
CA413502149
NM_000166.6:c.392T>C