Allele Registry

Canonical Allele Identifier: PA2828421740

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529750

ClinVar RCV:

RCV001023842

RCV001513329

RCV004004052

ClinVar Variation:

536110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1712Val	CA054932 NM_001370405.1:c.5135C>T