Allele Registry

Canonical Allele Identifier: PA2827013125

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530152

ClinVar RCV:

RCV000644337

RCV001013956

ClinVar Variation:

536057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Pro465Ala	CA394274414 NM_001318831.2:c.1393C>G