Canonical Allele Identifier: PA916036817
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_001340890.1:p.Ser657Phe
CA303462
NM_001353961.2:c.1970C>T