Canonical Allele Identifier: PA2825078115
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637151
ClinVar RCV Id: RCV000789200
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Cys201Phe
CA413503270
NM_000166.6:c.602G>T