Allele Registry

Canonical Allele Identifier: PA2825955381

Gene: TSC1 HGNC NCBI

ClinVar Allele:

202495

ClinVar RCV:

RCV000189843

RCV000642034

RCV002372157

RCV003996855

ClinVar Variation:

207629

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Thr249Ala	CA319286 NM_001162427.2:c.745A>G