Canonical Allele Identifier: PA2827013909
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536006
ClinVar RCV Id: RCV000644267 RCV001016255 RCV002264970 RCV004004025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.His690Tyr
CA040850
NM_001318831.2:c.2068C>T