ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947011
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284761
ClinVar RCV Id:
RCV000259263
RCV000811912
RCV002467716
RCV002379128
RCV002467715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Leu327Val
CA7535662
NM_001160227.2:c.979C>G