ClinGen Allele Registry
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Canonical Allele Identifier:
PA645404057
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001159435.1:p.Tyr1274Ter
NM_001165963.4:c.3822T>A
NM_001165963.4:c.3822T>G