Allele Registry

Canonical Allele Identifier: PA2827000985

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400681

ClinVar RCV:

RCV000457917

RCV001017372

RCV002244933

RCV003463864

ClinVar Variation:

405972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu335Pro	CA16614653 NM_001318827.2:c.1004T>C