Allele Registry

Canonical Allele Identifier: PA2827013166

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644078

RCV000765268

RCV001014102

RCV004003988

ClinVar Variation:

535866

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ala475Ser	CA276737715 NM_001318831.2:c.1423G>T