Allele Registry

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Canonical Allele Identifier: PA2829531993

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 279817

ClinVar RCV Id: RCV000332290 RCV000549186 RCV002446509

ClinVar Variation Id: 2573137

ClinVar RCV Id: RCV003315384

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Val765Leu	CA9958084 NM_004518.5:c.2293G>T CA409637410 NM_004518.5:c.2293G>C