ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239347
Gene: SCN2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001035232.1:p.Thr393Lys
NM_001040142.2:c.1178C>A