Canonical Allele Identifier: PA1139716314
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 975155

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala78Ser
CA387461572
NM_004004.6:c.232G>T