Allele Registry

Canonical Allele Identifier: PA2829972519

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034641

RCV000055595

RCV000122202

RCV000163628

RCV000230505

RCV000714826

ClinVar Variation:

41724

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala357Val	CA013675 NM_021055.3:c.1070C>T