ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825948203
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1747387
ClinVar RCV Id:
RCV002349439
RCV003096727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Arg1805Cys
CA392222597
NM_001160227.2:c.5413C>T