Canonical Allele Identifier: PA341607
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21085
ClinVar RCV Id: RCV000020175 RCV000220506 RCV000789199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Cys179Tyr
CA341605
NM_000166.6:c.536G>A