Allele Registry

Canonical Allele Identifier: PA2827000359

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043112

RCV000419036

RCV000729019

RCV000781951

RCV000989415

RCV001024017

ClinVar Variation:

49846

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu143Val	CA022465 NM_001318827.2:c.427C>G