Allele Registry

Canonical Allele Identifier: PA2827001230

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644119

RCV001010952

RCV001719001

RCV004002563

ClinVar Variation:

513426

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu411Val	CA394322581 NM_001318827.2:c.1231C>G