ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361575
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207132
ClinVar RCV Id:
RCV000189290
RCV002517898
RCV003992222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg1831Leu
CA318301
NM_001369788.1:c.5492G>T