Canonical Allele Identifier: PA2827015486
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135388
ClinVar RCV Id: RCV000122237 RCV000706466 RCV001022523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala1245Thr
CA020493
NM_001318831.2:c.3733G>A