Canonical Allele Identifier: PA2830344940
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002529
ClinVar RCV Id: RCV001298967
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Pro440Leu
CA409646721
NM_172106.3:c.1319C>T