Canonical Allele Identifier: PA2827009201
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468061
ClinVar RCV Id: RCV000544952 RCV001584296 RCV000764030 RCV003999303 RCV004024051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1240Gly
CA394299372
NM_001318829.2:c.3718A>G