Canonical Allele Identifier: PA2829531940
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 461417
ClinVar RCV Id: RCV000560375 RCV001591215 RCV002254526 RCV003315353
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Thr743Ile
CA9958103
NM_004518.5:c.2228C>T