Canonical Allele Identifier: PA2827001793
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535861
ClinVar RCV Id: RCV000644072 RCV001013270 RCV004003986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser571Thr
CA033723
NM_001318827.2:c.1712G>C