Canonical Allele Identifier: PA2827765320
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12890
ClinVar RCV Id: RCV000032605 RCV000794577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Leu975Phe
CA281911
NM_001353950.2:c.2923C>T