Allele Registry

Canonical Allele Identifier: PA915986823

Gene: TSC1 HGNC NCBI

ClinVar Allele:

397245

ClinVar RCV:

RCV000458416

RCV000565985

RCV000610190

RCV004001889

ClinVar Variation:

411210

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg288Cys	CA039240 NM_001162426.2:c.862C>T