Canonical Allele Identifier: PA2573083495
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305927
ClinVar RCV Id: RCV001766880

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys103Arg
CA387461424
NM_004004.6:c.308A>G