ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047890
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
748133
ClinVar RCV Id:
RCV000924907
RCV001399312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg223Thr
CA385224699
NM_001369788.1:c.668G>C