ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055760
Gene: SCN2A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_066287.2:p.Arg223Gln
NM_021007.3:c.668G>A