Allele Registry

Canonical Allele Identifier: PA916043238

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042310

RCV000130555

RCV000225932

RCV001703930

RCV001727549

RCV003915006

ClinVar Variation:

49057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Arg69Cys	CA007757 NM_001362177.1:c.205C>T