ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828360609
Gene: SCN8A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Ser627Leu
CA385229785
NM_001369788.1:c.1880C>T