Allele Registry

Canonical Allele Identifier: PA2825917237

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000477742

RCV000694777

ClinVar Variation:

417732

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg204Cys	CA16616853 NM_001162426.2:c.610C>T