ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361480
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521651
ClinVar RCV Id:
RCV000988852
RCV000622903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Met1719Thr
CA384885161
NM_001369788.1:c.5156T>C