ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007093
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207719
ClinVar RCV Id:
RCV000189985
RCV001012413
RCV001088401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg488His
CA031730
NM_001318829.2:c.1463G>A