Canonical Allele Identifier: PA2499265352
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297639
ClinVar RCV Id: RCV001723407

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg216Ile
CA6904219
NM_004004.6:c.647G>T