Allele Registry

Canonical Allele Identifier: PA915987269

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524498

ClinVar RCV:

RCV000642007

RCV003432681

ClinVar Variation:

534442

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Leu45Ser	CA375375186 NM_001162427.2:c.134T>C