Allele Registry

Canonical Allele Identifier: PA2825955768

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000041999

RCV000055012

RCV000422201

RCV000988278

RCV001010542

RCV001165673

ClinVar Variation:

48752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Thr416Ile	CA004523 NM_001162426.2:c.1247C>T