Allele Registry

Canonical Allele Identifier: PA263032

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043220

RCV000473187

RCV001024627

RCV001719786

RCV003153330

ClinVar Variation:

49953

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala196Thr	CA022594 NM_000548.5:c.586G>A