Canonical Allele Identifier: PA2828886732
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329944
ClinVar RCV Id: RCV001800252

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Leu312Phe
CA409652325
NM_001382235.1:c.936G>T
CA409652327
NM_001382235.1:c.936G>C