Allele Registry

Canonical Allele Identifier: PA2828421631

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644311

RCV001023718

RCV001023719

RCV001550915

RCV001797811

RCV003456111

ClinVar Variation:

536037

825544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Asp1687Asn	CA054398 NM_001370405.1:c.5059G>A CA915946265 NM_001370405.1:c.5059_5061delinsAAC