Canonical Allele Identifier: PA2829531058
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_004509.2:p.Val422Met
CA288922
NM_004518.5:c.1264G>A