Allele Registry

Canonical Allele Identifier: PA2825955397

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042380

RCV000432455

RCV002371859

RCV003420893

ClinVar Variation:

49125

2636244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Gly254Arg	CA008396 NM_001162427.2:c.760G>A CA375368965 NM_001162427.2:c.760G>C