Canonical Allele Identifier: PA315411
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205888
ClinVar RCV Id: RCV000187885 RCV003315319 RCV003326126
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Ala306Pro
CA315410
NM_172107.3:c.916G>C