Canonical Allele Identifier: PA098193
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155725
ClinVar RCV Id: RCV000143794 RCV002512552
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Met194Val
CA270643
NM_000166.6:c.580A>G