ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361566
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450430
ClinVar RCV Id:
RCV000521968
RCV002525172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg1825Gln
CA384887889
NM_001369788.1:c.5474G>A