Allele Registry

Canonical Allele Identifier: PA658808741

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042310

RCV000130555

RCV000225932

RCV001703930

RCV001727549

RCV003915006

ClinVar Variation:

49057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg190Cys	CA007757 NM_001162426.2:c.568C>T