Canonical Allele Identifier: PA2827758044
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68590
ClinVar RCV Id: RCV000059466 RCV002514307 RCV003992173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Tyr779Cys
CA266101
NM_001353949.2:c.2336A>G