Allele Registry

Canonical Allele Identifier: PA2828413989

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042782

RCV000541237

RCV000764029

RCV001021518

ClinVar Variation:

49522

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Asp1275Val	CA019742 NM_001370404.1:c.3824A>T