Allele Registry

Canonical Allele Identifier: PA2825954970

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001054097

RCV003307873

ClinVar Variation:

850016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Trp113Leu	CA375373176 NM_001162427.2:c.338G>T