ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827018377
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1795250
ClinVar RCV Id:
RCV002431341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro921Ile
CA2580090869
NM_001318832.2:c.2761_2762delinsAT