Allele Registry

Canonical Allele Identifier: PA2825957707

Gene: TSC1 HGNC NCBI

ClinVar Allele:

396515

ClinVar RCV:

RCV000471719

RCV001016836

RCV002525597

ClinVar Variation:

411266

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Leu914Ile	CA16612444 NM_001162427.2:c.2740T>A