Allele Registry

Canonical Allele Identifier: PA2828060217

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000122190

RCV000163665

RCV000725780

RCV001080054

RCV003945105

ClinVar Variation:

135364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Pro520Ser	CA005597 NM_001362177.1:c.1558C>T