ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449546
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253295
ClinVar RCV Id:
RCV000239746
RCV001059522
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Gln1801Glu
CA10586300
NM_014191.4:c.5401C>G