ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827780079
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ser1316Pro
CA349052944
NM_001353955.2:c.3946T>C