Canonical Allele Identifier: PA2830345754
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490541
ClinVar RCV Id: RCV001983792
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Val250Ala
CA409653915
NM_172107.3:c.749T>C