ClinGen Allele Registry
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Canonical Allele Identifier:
PA322134
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
211751
ClinVar RCV:
RCV000197675
RCV001039520
RCV002515438
ClinVar Variation:
215207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Thr261Met
CA322133
NM_003119.4:c.782C>T