ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947057
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387116
ClinVar RCV Id:
RCV000443429
RCV000543601
RCV002446710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Asn376Asp
CA7535615
NM_001160227.2:c.1126A>G