Allele Registry

Canonical Allele Identifier: PA2828410795

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529885

ClinVar RCV:

RCV000644222

RCV001017006

RCV004004017

RCV004533366

ClinVar Variation:

535974

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val339Ile	CA276776626 NM_001370404.1:c.1015G>A