Canonical Allele Identifier: PA2830345749
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693143
ClinVar RCV Id: RCV003588955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Phe248_Val250del
CA2697547467
NM_172107.3:c.743_751del