ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825948189
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2195581
ClinVar RCV Id:
RCV002628783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Glu1796_Glu1798dup