Allele Registry

Canonical Allele Identifier: PA2827001373

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042417

RCV001056606

RCV003162356

ClinVar Variation:

49161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu456Val	CA014935 NM_001318827.2:c.1366C>G