Allele Registry

Canonical Allele Identifier: PA2825919380

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000189860

RCV001079866

RCV002256098

RCV003996858

ClinVar Variation:

207641

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Glu1043Lys	CA319317 NM_001162426.2:c.3127G>A