Canonical Allele Identifier: PA2827008909
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50015
ClinVar RCV Id: RCV000043283 RCV000537246 RCV003162359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1148Cys
CA019506
NM_001318829.2:c.3442C>T