Allele Registry

Canonical Allele Identifier: PA645413460

Gene: TSC1 HGNC NCBI

ClinVar Allele:

396515

ClinVar RCV:

RCV000471719

RCV001016836

RCV002525597

ClinVar Variation:

411266

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu965Ile	CA16612444 NM_000368.5:c.2893T>A