Canonical Allele Identifier: PA2573233264
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458348
ClinVar RCV Id: RCV001949480

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala88Val
CA387461514
NM_004004.6:c.263C>T