Allele Registry

Canonical Allele Identifier: PA915986875

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042380

RCV000432455

RCV002371859

RCV003420893

ClinVar Variation:

49125

2636244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Gly305Arg	CA008396 NM_001162426.2:c.913G>A CA375368965 NM_001162426.2:c.913G>C