Allele Registry

Canonical Allele Identifier: PA2829983762

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529750

ClinVar RCV:

RCV001023842

RCV001513329

RCV004004052

ClinVar Variation:

536110

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1716Val	CA054932 NM_021055.3:c.5147C>T