Canonical Allele Identifier: PA658814293
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 530437
ClinVar RCV Id: RCV000636301 RCV000765491 RCV004025475
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Arg760Cys
CA409638061
NM_172107.3:c.2278C>T