Canonical Allele Identifier: PA2830344411
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1326315
ClinVar RCV Id: RCV001786537

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ala178Val
CA409654934
NM_172106.3:c.533C>T