Allele Registry

Canonical Allele Identifier: PA645413142

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000475554

RCV001018033

RCV001591100

RCV003155192

RCV004001908

ClinVar Variation:

411277

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro286Arg	CA039224 NM_000368.5:c.857C>G