Canonical Allele Identifier: PA2830346120
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725440
ClinVar RCV Id: RCV003588104

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Ser694Arg
CA409639031
NM_172107.3:c.2082C>G
CA409639032
NM_172107.3:c.2082C>A
CA409639037
NM_172107.3:c.2080A>C