ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303113
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001159435.1:p.Ser1750_Ser1751delinsArg
NM_001165963.4:c.5250_5252del