Canonical Allele Identifier: PA2830347261
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507546
ClinVar RCV Id: RCV002048100

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Glu625Asp
CA409639315
NM_172108.3:c.1875G>T
CA409639316
NM_172108.3:c.1875G>C