Allele Registry

Canonical Allele Identifier: PA2827005570

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529750

ClinVar RCV:

RCV001023842

RCV001513329

RCV004004052

ClinVar Variation:

536110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala1656Val	CA054932 NM_001318827.2:c.4967C>T