Allele Registry

Canonical Allele Identifier: PA2828060257

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042112

RCV000841758

RCV001056632

RCV001989095

RCV002255265

ClinVar Variation:

48861

1492044

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Asp537Glu	CA005685 NM_001362177.1:c.1611C>G CA375362316 NM_001362177.1:c.1611C>A