Allele Registry

Canonical Allele Identifier: PA2828417188

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043444

RCV000201101

ClinVar Variation:

50176

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro419Ser	CA014179 NM_001370405.1:c.1255C>T