ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130783
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253297
ClinVar RCV Id:
RCV000239745
RCV000523884
RCV000704631
RCV003992248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Arg1831Gln
CA10586302
NM_001177984.2:c.5492G>A