ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020066
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000542919
RCV001764575
RCV002341363
ClinVar Variation:
468095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.His1450Tyr
CA394302760
NM_001318832.2:c.4348C>T