Allele Registry

Canonical Allele Identifier: PA2828059528

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000548696

RCV001017287

RCV003999182

ClinVar Variation:

466005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Pro246Ala	CA375367523 NM_001362177.1:c.736C>G