Canonical Allele Identifier: PA2580237418
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1801026
ClinVar RCV Id: RCV002462623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Gly752Arg
CA409638559
NM_001382235.1:c.2254G>A
CA409638562
NM_001382235.1:c.2254G>C