Canonical Allele Identifier: PA2827789658
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_001340889.1:p.Thr1680Ile
CA256611
NM_001353960.2:c.5039C>T