Canonical Allele Identifier: PA2830347062
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205948
ClinVar RCV Id: RCV000187952 RCV001852466
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Gly483Arg
CA315564
NM_172108.3:c.1447G>A
CA409645742
NM_172108.3:c.1447G>C