Canonical Allele Identifier: PA334141
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188136
ClinVar RCV Id: RCV000168011 RCV000789271
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ala39Val
CA334139
NM_001097642.3:c.116C>T