Allele Registry

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Canonical Allele Identifier: PA916062460

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208761

ClinVar RCV Id: RCV000190782 RCV001857675

ClinVar Variation Id: 211234

ClinVar RCV Id: RCV000192641 RCV002317690

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Glu231Asp	CA204842 NM_172109.3:c.693G>C CA205596 NM_172109.3:c.693G>T