Allele Registry

Canonical Allele Identifier: PA2827016919

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000544848

RCV001020329

RCV003999291

ClinVar Variation:

468016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg126His	CA046888 NM_001318832.2:c.377G>A