Canonical Allele Identifier: PA913197117
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634811
ClinVar RCV Id: RCV000785599

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys53Phe
CA387461760
NM_004004.6:c.158G>T