Canonical Allele Identifier: PA098309
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637574
ClinVar RCV Id: RCV000789821
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Phe193Cys
CA413503219
NM_000166.6:c.578T>G