ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121233
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215224
ClinVar RCV Id:
RCV000200130
RCV003417715
RCV002515440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Glu702Lys
CA324687
NM_001363850.1:c.2104G>A