Allele Registry

Canonical Allele Identifier: PA2828060222

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000566852

RCV000808127

RCV001770526

RCV004001136

ClinVar Variation:

486569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Thr522Ala	CA375362637 NM_001362177.1:c.1564A>G