Allele Registry

Canonical Allele Identifier: PA2827012705

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76006

ClinVar RCV:

RCV000055282

RCV000562096

RCV000765264

RCV000782250

RCV001080544

ClinVar Variation:

65075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val360Met	CA015425 NM_001318831.2:c.1078G>A