ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827790269
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.His119Tyr
CA10602812
NM_001353961.2:c.355C>T