ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361593
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1391051
ClinVar RCV Id:
RCV001889702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Ser1841Pro
CA384888285
NM_001369788.1:c.5521T>C