ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144635
Gene: SCN8A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001171455.1:p.Leu1290Val
NM_001177984.2:c.3868C>G