Canonical Allele Identifier: PA2741907225
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754059
ClinVar RCV Id: RCV003569139

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gln124Pro
CA387461286
NM_004004.6:c.371A>C