Canonical Allele Identifier: PA098529
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637575
ClinVar RCV Id: RCV000789822 RCV002290040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ser198Phe
CA413503252
NM_000166.6:c.593C>T