Allele Registry

Canonical Allele Identifier: PA2825918358

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000164473

RCV000439211

RCV001086626

ClinVar Variation:

185109

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg688Cys	CA005878 NM_001162426.2:c.2062C>T