Canonical Allele Identifier: PA2827768375
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_001340879.1:p.Cys1853Ser
CA349065298
NM_001353950.2:c.5558G>C
CA349065313
NM_001353950.2:c.5557T>A