Allele Registry

Canonical Allele Identifier: PA915987037

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000548696

RCV001017287

RCV003999182

ClinVar Variation:

466005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Pro367Ala	CA375367523 NM_001162426.2:c.1099C>G