Allele Registry

Canonical Allele Identifier: PA2827018741

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530207

ClinVar RCV:

RCV000644133

RCV001019823

RCV001756075

RCV003459536

ClinVar Variation:

535906

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val1069Met	CA045672 NM_001318832.2:c.3205G>A