Allele Registry

Canonical Allele Identifier: PA658805113

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529750

ClinVar RCV:

RCV001023842

RCV001513329

RCV004004052

ClinVar Variation:

536110

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala1759Val	CA054932 NM_000548.5:c.5276C>T