ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827782489
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.His905Tyr
CA10602812
NM_001353957.2:c.2713C>T