Allele Registry

Canonical Allele Identifier: PA2827008680

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000438616

RCV003766401

ClinVar Variation:

390104

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1066Ala	CA046994 NM_001318829.2:c.3196C>G