Canonical Allele Identifier: PA2827783729
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_001340886.1:p.Thr1681Ile
CA256611
NM_001353957.2:c.5042C>T