Allele Registry

Canonical Allele Identifier: PA658659536

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000572956

RCV000713912

RCV001086734

ClinVar Variation:

466161

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Cys306Tyr	CA039723 NM_000368.5:c.917G>A