Allele Registry

Canonical Allele Identifier: PA2825954942

Gene: TSC1 HGNC NCBI

ClinVar Allele:

475060

ClinVar RCV:

RCV000569391

RCV000642000

RCV001570618

RCV004001132

ClinVar Variation:

486560

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Asp105Ala	CA200901578 NM_001162427.2:c.314A>C