Canonical Allele Identifier: PA2830345742
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042330
ClinVar RCV Id: RCV002917398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Ala246_Leu249del
CA2580098746
NM_172107.3:c.737_748del