Canonical Allele Identifier: PA219780
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68636
ClinVar RCV Id: RCV000059515 RCV000986874 RCV001513378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Arg1575Cys
CA219777
NM_001165963.4:c.4723C>T