Canonical Allele Identifier: PA2827780348
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189976
ClinVar RCV Id: RCV000180931 RCV002516539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ser1459Phe
CA303462
NM_001353955.2:c.4376C>T