ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825948404
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534854
ClinVar RCV Id:
RCV000642551
RCV001507875
RCV002467954
RCV002467955
RCV003243229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Arg2024Gln
CA7534137
NM_001160227.2:c.6071G>A