Allele Registry

Canonical Allele Identifier: PA2825956147

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000641984

RCV001012234

ClinVar Variation:

534427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Ser473Phe	CA375365031 NM_001162427.2:c.1418C>T