Allele Registry

Canonical Allele Identifier: PA2825956465

Gene: TSC1 HGNC NCBI

ClinVar Allele:

397202

ClinVar RCV:

RCV000462659

RCV002411506

RCV003476099

ClinVar Variation:

411248

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.His555Gln	CA029913 NM_001162427.2:c.1665T>A CA375363314 NM_001162427.2:c.1665T>G