Canonical Allele Identifier: PA204843
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208761
ClinVar RCV Id: RCV000190782 RCV001857675
ClinVar Variation Id: 211234
ClinVar RCV Id: RCV000192641 RCV002317690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Glu231Asp
CA204842
NM_172107.3:c.693G>C
CA205596
NM_172107.3:c.693G>T