Canonical Allele Identifier: PA2825078099
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637645
ClinVar RCV Id: RCV000789909 RCV003387929
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ser198Ala
CA413503249
NM_000166.6:c.592T>G