ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130304
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417447
RCV001030824
ClinVar Variation:
392657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Lys1237Arg
CA6571667
NM_001177984.2:c.3710A>G