Canonical Allele Identifier: PA2827013750
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387803
ClinVar RCV Id: RCV000433607 RCV003512044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu643Pro
CA16606932
NM_001318831.2:c.1928T>C