ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828360744
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1803381
ClinVar RCV Id:
RCV002467051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Gly788Glu
CA384880223
NM_001369788.1:c.2363G>A