Canonical Allele Identifier: PA2825077065
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543917
ClinVar RCV Id: RCV000654836 RCV000789055 RCV003447152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Cys60Tyr
CA413501299
NM_000166.6:c.179G>A