Allele Registry

Canonical Allele Identifier: PA2828092698

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000554781

RCV002438413

RCV003999276

ClinVar Variation:

467964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg917Trp	CA041738 NM_001363528.2:c.2749C>T