Canonical Allele Identifier: PA1139716308
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 992241
ClinVar RCV Id: RCV001280636

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile74Thr
CA387461590
NM_004004.6:c.221T>C