Allele Registry

Canonical Allele Identifier: PA2825919368

Gene: TSC1 HGNC NCBI

ClinVar Allele:

475058

ClinVar RCV:

RCV000564806

RCV000642049

RCV003237943

RCV003945355

ClinVar Variation:

486561

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Gly1035Glu	CA035815 NM_001162426.2:c.3104G>A