ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130545
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000239762
RCV001528565
RCV001854935
ClinVar Variation:
253290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Ser1555Cys
CA10586296
NM_001177984.2:c.4664C>G