Canonical Allele Identifier: PA913197131
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 633242

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.His100Leu
CA387461446
NM_004004.6:c.299A>T