Allele Registry

Canonical Allele Identifier: PA2827008991

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000521160

RCV000644179

RCV004023617

ClinVar Variation:

452681

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1175Ser	CA048474 NM_001318829.2:c.3523C>T