Allele Registry

Canonical Allele Identifier: PA658659672

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000566852

RCV000808127

RCV001770526

RCV004001136

ClinVar Variation:

486569

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr643Ala	CA375362637 NM_000368.5:c.1927A>G