ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361537
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2039724
ClinVar RCV Id:
RCV002900112
RCV004066001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg1800His
CA384887139
NM_001369788.1:c.5399G>A