Canonical Allele Identifier: PA1139745388
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 961112
ClinVar RCV Id: RCV001234749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Lys717del
CA9958154
NM_001382235.1:c.2151_2153del