Canonical Allele Identifier: PA2827776138
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2801129
ClinVar RCV Id: RCV003753978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Arg617Ser
CA349067449
NM_001353954.2:c.1849C>A