Canonical Allele Identifier: PA916062378
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450447
ClinVar RCV Id: RCV000520068

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Cys169Arg
CA409655077
NM_172109.3:c.505T>C