ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139740458
Gene: SCN1A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001340877.1:p.Phe1815Ser
NM_001353948.2:c.5444T>C