Canonical Allele Identifier: PA2828886841
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129332
ClinVar RCV Id: RCV000117335 RCV000233438 RCV001704024 RCV002313894 RCV004529969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369164.1:p.Val432Met
CA288922
NM_001382235.1:c.1294G>A