Allele Registry

Canonical Allele Identifier: PA2825958090

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524719

ClinVar RCV:

RCV000642019

RCV001020300

RCV004003961

ClinVar Variation:

534453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Pro1094Leu	CA037070 NM_001162427.2:c.3281C>T