Allele Registry

Canonical Allele Identifier: PA2827003941

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042782

RCV000541237

RCV000764029

RCV001021518

ClinVar Variation:

49522

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Asp1216Val	CA019742 NM_001318827.2:c.3647A>T