ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827790394
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Phe181Cys
CA234856
NM_001353961.2:c.542T>G