Allele Registry

Canonical Allele Identifier: PA2828061199

Gene: TSC1 HGNC NCBI

ClinVar Allele:

202464

ClinVar RCV:

RCV000189860

RCV001079866

RCV002256098

RCV003996858

ClinVar Variation:

207641

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Glu923Lys	CA319317 NM_001362177.1:c.2767G>A