Allele Registry

Canonical Allele Identifier: PA658681143

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000516748

RCV001857933

ClinVar Variation:

448730

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1325Asp	CA049827 NM_000548.5:c.3974G>A