ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827758759
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Leu977Arg
CA349060603
NM_001353949.2:c.2930T>G