Allele Registry

Canonical Allele Identifier: PA2828413153

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226848

RCV001019293

RCV003480561

ClinVar Variation:

238015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val1029Met	CA044793 NM_001370404.1:c.3085G>A