Canonical Allele Identifier: PA2827778043
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1748495
ClinVar RCV Id: RCV002344824 RCV003753238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Cys1852Ser
CA349065298
NM_001353954.2:c.5555G>C
CA349065313
NM_001353954.2:c.5554T>A