Canonical Allele Identifier: PA2830345356
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 461417
ClinVar RCV Id: RCV000560375 RCV001591215 RCV002254526 RCV003315353
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742104.1:p.Thr753Ile
CA9958103
NM_172106.3:c.2258C>T