Canonical Allele Identifier: PA2827784281
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2178954
ClinVar RCV Id: RCV002591648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Pro82Ser
CA349242675
NM_001353958.2:c.244C>T