ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827759696
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79517
ClinVar RCV:
RCV000059503
RCV000188936
RCV001220193
RCV001786331
ClinVar Variation:
68625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Leu1298Phe
CA266111
NM_001353949.2:c.3892C>T