Canonical Allele Identifier: PA097957
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215983
ClinVar RCV Id: RCV000198281 RCV000756204 RCV000789176 RCV002433887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile28Asn
CA337772
NM_000166.6:c.83T>A