Allele Registry

Canonical Allele Identifier: PA264358

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055056

RCV000472588

RCV001019643

RCV001545684

RCV002496735

ClinVar Variation:

64856

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1094Leu	CA018808 NM_000548.5:c.3281C>T