Canonical Allele Identifier: PA2573215593
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482390
ClinVar RCV Id: RCV001995602
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Pro750Ser
CA9958129
NM_001382235.1:c.2248C>T