ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009679
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468095
ClinVar RCV Id:
RCV000542919
RCV001764575
RCV002341363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.His1391Tyr
CA394302760
NM_001318829.2:c.4171C>T