Canonical Allele Identifier: PA2830345757
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001558
ClinVar RCV Id: RCV001297877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Leu252Phe
CA409653879
NM_172107.3:c.756G>T
CA409653882
NM_172107.3:c.756G>C