Canonical Allele Identifier: PA2827012337
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65281
ClinVar RCV Id: RCV000055502 RCV000760985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu248Pro
CA014458
NM_001318831.2:c.743T>C