Allele Registry

Canonical Allele Identifier: PA2827001232

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055502

RCV000760985

ClinVar Variation:

65281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu411Pro	CA014458 NM_001318827.2:c.1232T>C