Allele Registry

Canonical Allele Identifier: PA2829983401

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644161

RCV002334132

ClinVar Variation:

535931

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.His1683Tyr	CA054330 NM_021055.3:c.5047C>T