Canonical Allele Identifier: PA2825077439
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017888
ClinVar RCV Id: RCV001317110
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu115Pro
CA413501963
NM_000166.6:c.344T>C