ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947232
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448461
ClinVar RCV Id:
RCV000517770
RCV001851462
RCV002467849
RCV002467850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Asp588Gly
CA7535442
NM_001160227.2:c.1763A>G