Allele Registry

Canonical Allele Identifier: PA2828415617

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001023842

RCV001513329

RCV004004052

ClinVar Variation:

536110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala1715Val	CA054932 NM_001370404.1:c.5144C>T