Canonical Allele Identifier: PA255259
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10444
ClinVar RCV Id: RCV000011189 RCV000789235
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ser85Cys
CA255257
NM_001097642.3:c.254C>G