Allele Registry

Canonical Allele Identifier: PA2828095299

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529736

ClinVar RCV:

RCV000644161

RCV002334132

ClinVar Variation:

535931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.His1660Tyr	CA054330 NM_001363528.2:c.4978C>T