Allele Registry

Canonical Allele Identifier: PA2825955085

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042320

RCV000441826

RCV000687950

RCV001169731

RCV002258784

RCV003407416

ClinVar Variation:

49067

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Val149Ile	CA007868 NM_001162427.2:c.445G>A