Canonical Allele Identifier: PA2827775863
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530476
ClinVar RCV Id: RCV000636355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Arg393Pro
CA349071038
NM_001353954.2:c.1178G>C