Allele Registry

Canonical Allele Identifier: PA2828416148

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000575476

RCV000594514

RCV000761927

RCV001086235

RCV004537998

ClinVar Variation:

467984

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala100Val	CA043693 NM_001370405.1:c.299C>T