Allele Registry

Canonical Allele Identifier: PA2825575514

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000456897

RCV001020136

RCV001618706

RCV004533165

ClinVar Variation:

406072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1127Trp	CA046408 NM_001114382.3:c.3379C>T