ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828121224
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
21854
ClinVar RCV:
RCV000007217
ClinVar Variation:
6815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350779.1:p.Ser692Thr
CA253965
NM_001363850.1:c.2075G>C