ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285023
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_008851.3:p.Ala1772Thr
NM_006920.6:c.5314G>A