Canonical Allele Identifier: PA256613
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12894
ClinVar RCV Id: RCV001296128 RCV000013754 RCV000013755
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr1698Ile
CA256611
NM_006920.6:c.5093C>T