Allele Registry

Canonical Allele Identifier: PA2828414995

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000415747

RCV000570208

RCV001088185

RCV003998833

RCV004532853

ClinVar Variation:

238061

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val1555Met	CA052464 NM_001370404.1:c.4663G>A