ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121225
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321287
ClinVar RCV Id:
RCV000393347
RCV000869510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Leu695Val
CA8244521
NM_001363850.1:c.2083C>G