Canonical Allele Identifier: PA658831318
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 560666
ClinVar RCV Id: RCV000678872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg75Gly
CA387461587
NM_004004.6:c.223C>G