Allele Registry

Canonical Allele Identifier: PA2825955596

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000548696

RCV001017287

RCV003999182

ClinVar Variation:

466005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Pro316Ala	CA375367523 NM_001162427.2:c.946C>G