Allele Registry

Canonical Allele Identifier: PA2828093812

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58684

ClinVar RCV:

RCV000042782

RCV000541237

RCV000764029

RCV001021518

ClinVar Variation:

49522

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Asp1253Val	CA019742 NM_001363528.2:c.3758A>T