Allele Registry

Canonical Allele Identifier: PA916022840

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226848

RCV001019293

RCV003480561

ClinVar Variation:

238015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val993Met	CA044793 NM_001318827.2:c.2977G>A