Allele Registry

Canonical Allele Identifier: PA2828060433

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000488377

RCV001089212

RCV002431423

RCV004003419

ClinVar Variation:

425467

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Arg600His	CA031606 NM_001362177.1:c.1799G>A