ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576995
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50096
ClinVar RCV Id:
RCV000043362
RCV002326765
RCV002514176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu1561Arg
CA020979
NM_001114382.3:c.4682T>G