Canonical Allele Identifier: PA2827013186
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535981
ClinVar RCV Id: RCV000644230 RCV001014160 RCV002282289 RCV003459538 RCV004004020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg480Leu
CA394274563
NM_001318831.2:c.1439G>T