Canonical Allele Identifier: PA1139716540
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 882640

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr186Met
CA6904238
NM_004004.6:c.557C>T