Allele Registry

Canonical Allele Identifier: PA262735

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042782

RCV000541237

RCV000764029

RCV001021518

ClinVar Variation:

49522

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asp1319Val	CA019742 NM_000548.5:c.3956A>T