Allele Registry

Canonical Allele Identifier: PA2828095378

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043229

RCV003311673

ClinVar Variation:

49962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Leu1678Pro	CA022245 NM_001363528.2:c.5033T>C