Canonical Allele Identifier: PA2830345205
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507546
ClinVar RCV Id: RCV002048100

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Glu638Asp
CA409639315
NM_172106.3:c.1914G>T
CA409639316
NM_172106.3:c.1914G>C