ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010309
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406029
ClinVar RCV Id:
RCV000466636
RCV002348293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1598Cys
CA054033
NM_001318829.2:c.4792C>T