ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828360173
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207137
ClinVar RCV Id:
RCV000189295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg45Gln
CA318311
NM_001369788.1:c.134G>A