Canonical Allele Identifier: PA2830347068
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1521331
ClinVar RCV Id: RCV002031223

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Ser491Arg
CA409645551
NM_172108.3:c.1473C>G
CA409645555
NM_172108.3:c.1473C>A
CA409645576
NM_172108.3:c.1471A>C