Canonical Allele Identifier: PA2830345347
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129334
ClinVar RCV Id: RCV000117337 RCV002444571 RCV002528214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Ala743Thr
CA231192
NM_172106.3:c.2227G>A