ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414657
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_001357333.1:p.His1462Tyr
CA394302760
NM_001370404.1:c.4384C>T