Canonical Allele Identifier: PA1139750161
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 872263
ClinVar RCV Id: RCV001092638 RCV001215405 RCV001786432 RCV002290597
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Val132Met
CA409655627
NM_172109.3:c.394G>A