Allele Registry

Canonical Allele Identifier: PA2825440207

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76006

ClinVar RCV:

RCV000055282

RCV000562096

RCV000765264

RCV000782250

RCV001080544

ClinVar Variation:

65075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Val560Met	CA015425 NM_001077183.3:c.1678G>A