Allele Registry

Canonical Allele Identifier: PA2827001438

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189982

RCV001012067

RCV001083877

ClinVar Variation:

207717

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu475Val	CA031024 NM_001318827.2:c.1423C>G