ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828361125
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189275
RCV000700845
ClinVar Variation:
207117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Ala1278Ser
CA318272
NM_001369788.1:c.3832G>T