Allele Registry

Canonical Allele Identifier: PA2828416416

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043112

RCV000419036

RCV000729019

RCV000781951

RCV000989415

RCV001024017

ClinVar Variation:

49846

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu180Val	CA022465 NM_001370405.1:c.538C>G