ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361544
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207130
ClinVar RCV Id:
RCV000189288
RCV000792213
RCV004528970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Thr1811Ile
CA318298
NM_001369788.1:c.5432C>T