ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826130828
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097452
ClinVar RCV Id:
RCV003018820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Gly1873Asp
CA384889047
NM_001177984.2:c.5618G>A