ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828360868
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000439821
RCV000766191
RCV003992294
ClinVar Variation:
383545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Gly964Arg
CA16607342
NM_001369788.1:c.2890G>C