Canonical Allele Identifier: PA2827790175
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68593
ClinVar RCV Id: RCV000059469 RCV000591357 RCV000798343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Arg48Gln
CA285069
NM_001353961.2:c.143G>A