Canonical Allele Identifier: PA645422991
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_742105.1:p.Val793Leu
CA9958084
NM_172107.3:c.2377G>T
CA409637410
NM_172107.3:c.2377G>C