Allele Registry

Canonical Allele Identifier: PA2828059611

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000041998

RCV000122186

RCV000163452

RCV000383299

RCV000514892

RCV001082139

ClinVar Variation:

48751

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ser282Leu	CA004489 NM_001362177.1:c.845C>T