Allele Registry

Canonical Allele Identifier: PA916043229

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000005412

RCV000042306

ClinVar Variation:

5105

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Leu59Pro	CA007706 NM_001362177.1:c.176T>C