Canonical Allele Identifier: PA2830346464
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2090392
ClinVar RCV Id: RCV003020885
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Val139Leu
CA409655527
NM_172108.3:c.415G>C
CA409655530
NM_172108.3:c.415G>T