Canonical Allele Identifier: PA2573233188
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507837
ClinVar RCV Id: RCV002013660

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly59Val
CA387461699
NM_004004.6:c.176G>T