Allele Registry

Canonical Allele Identifier: PA2828093611

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000964609

RCV001020951

RCV001703809

RCV003235210

RCV004533019

ClinVar Variation:

383442

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ala1194Val	CA048133 NM_001363528.2:c.3581C>T