Canonical Allele Identifier: PA2580282988
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087433
ClinVar RCV Id: RCV003000025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser199Ala
CA387460831
NM_004004.6:c.595T>G