ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825946809
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1344085
ClinVar RCV Id:
RCV001848188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Arg93Cys
CA392238423
NM_001160227.2:c.277C>T