Allele Registry

Canonical Allele Identifier: PA2828420755

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042750

RCV001852889

RCV003441731

ClinVar Variation:

49490

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1454Thr	CA020509 NM_001370405.1:c.4360C>A