Allele Registry

Canonical Allele Identifier: PA2825955402

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000572956

RCV000713912

RCV001086734

ClinVar Variation:

466161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Cys255Tyr	CA039723 NM_001162427.2:c.764G>A