ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827784812
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059376
RCV001036662
ClinVar Variation:
68504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Arg393Ser
CA284865
NM_001353958.2:c.1177C>A