Canonical Allele Identifier: PA2499300112
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175999
ClinVar RCV Id: RCV001531363
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Val170Leu
CA409655063
NM_172109.3:c.508G>T
CA409655064
NM_172109.3:c.508G>C