ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776437
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Leu857Ser
CA16042442
NM_001353954.2:c.2570T>C