Canonical Allele Identifier: PA099074
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10441
ClinVar RCV Id: RCV000011186 RCV000168221 RCV000235924 RCV000789817 RCV002433451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val95Met
CA255254
NM_000166.6:c.283G>A