Allele Registry

Canonical Allele Identifier: PA916022947

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000543169

RCV002395408

RCV003999336

ClinVar Variation:

468180

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Cys53Phe	CA394312795 NM_001318831.2:c.158G>T