ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826130763
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806611
ClinVar RCV Id:
RCV002474040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Leu1821Val
CA384887775
NM_001177984.2:c.5461T>G