ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825957404
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486590
ClinVar RCV Id:
RCV000562317
RCV001859977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr823Pro
CA375369840
NM_001162427.2:c.2467A>C