Canonical Allele Identifier: PA2830344573
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21800
ClinVar RCV Id: RCV000678093 RCV001047068
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Val250Gly
CA342528
NM_172106.3:c.749T>G