ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580335364
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Cys336Arg
CA349071610
NM_006920.6:c.1006T>C