Canonical Allele Identifier: PA2829530402
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197891
ClinVar RCV Id: RCV000179032 RCV000187875 RCV000192955 RCV000555510
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Ala265Thr
CA278513
NM_004518.5:c.793G>A