ClinGen Allele Registry
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Canonical Allele Identifier:
PA658706453
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001189364.1:p.Asp1608Tyr
NM_001202435.3:c.4822G>T