ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825947099
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203369
ClinVar RCV Id:
RCV000185539
RCV001847822
RCV002372141
RCV001508762
RCV002467649
RCV002467650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Pro424Thr
CA275497
NM_001160227.2:c.1270C>A