ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828120872
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000205153
ClinVar Variation:
219638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ile219Thr
CA349347
NM_001363850.1:c.656T>C