Canonical Allele Identifier: PA658831331
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 556293
ClinVar RCV Id: RCV000672286

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu101del
CA658823458
NM_004004.6:c.301_303del