ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828120711
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
211737
ClinVar RCV:
RCV000817246
RCV001722098
RCV001847886
RCV002515437
ClinVar Variation:
215198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ala2Thr
CA321845
NM_001363850.1:c.4G>A