ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826130000
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
807679
ClinVar RCV Id:
RCV000995865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Leu849His
CA384886415
NM_001177984.2:c.2546T>A