ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130677
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2402448
ClinVar RCV:
RCV003123249
ClinVar Variation:
2429008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Ile1715Ser
CA384885081
NM_001177984.2:c.5144T>G