Canonical Allele Identifier: PA097749
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447439
ClinVar RCV Id: RCV000518825 RCV000789848 RCV000805747 RCV002367715
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Glu208Lys
CA413503325
NM_000166.6:c.622G>A