Allele Registry

Canonical Allele Identifier: PA2827001653

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545413

RCV001012884

ClinVar Variation:

467892

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr540Ile	CA033165 NM_001318827.2:c.1619C>T