ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139724497
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
871346
ClinVar RCV Id:
RCV001091248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Ser1859Gly
CA384887687
NM_014191.4:c.5575A>G