Canonical Allele Identifier: PA2741907206
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506297
ClinVar RCV Id: RCV003236528

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gln80Arg
CA387461561
NM_004004.6:c.239A>G