ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361556
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464681
ClinVar RCV Id:
RCV001979185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Glu1820Gly
CA384887768
NM_001369788.1:c.5459A>G