Canonical Allele Identifier: PA2827013286
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65328
ClinVar RCV Id: RCV000055552 RCV000494277 RCV000660343 RCV002415509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Val505Met
CA016792
NM_001318831.2:c.1513G>A