Canonical Allele Identifier: PA2830345028
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 433180
ClinVar RCV Id: RCV000497475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Lys519_Val520del
CA645372661
NM_172106.3:c.1556_1561del