Allele Registry

Canonical Allele Identifier: PA2827002711

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043344

RCV000612238

RCV001087230

RCV002255269

ClinVar Variation:

50078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala825Val	CA017697 NM_001318827.2:c.2474C>T