Canonical Allele Identifier: PA222245
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 94391
ClinVar RCV Id: RCV000080367

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val63Met
CA222244
NM_004004.6:c.187G>A