Canonical Allele Identifier: PA2830345216
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373184
ClinVar RCV Id: RCV000414000 RCV001299367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ala649Val
CA9958176
NM_172106.3:c.1946C>T