Canonical Allele Identifier: PA2827752130
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 425226
ClinVar RCV Id: RCV000487912 RCV001448434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Tyr1025Phe
CA1943013
NM_001353948.2:c.3074A>T