ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828361522
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001206283
ClinVar Variation:
937302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Arg1779Gln
CA236327645
NM_001369788.1:c.5336G>A