Canonical Allele Identifier: PA2828886848
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002529
ClinVar RCV Id: RCV001298967

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Pro440Leu
CA409646721
NM_001382235.1:c.1319C>T