ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004879
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50095
ClinVar RCV Id:
RCV000043361
RCV000820413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Leu1475Pro
CA020960
NM_001318827.2:c.4424T>C