Canonical Allele Identifier: PA098107
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447428
ClinVar RCV Id: RCV000516283 RCV000552811 RCV000789233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu89Pro
CA413501709
NM_000166.6:c.266T>C