ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449098
Gene: SCN8A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055006.1:p.Arg530Trp
NM_014191.4:c.1588C>T