Allele Registry

Canonical Allele Identifier: PA2827015200

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000456699

RCV000571397

RCV004000697

ClinVar Variation:

406016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val1163Met	CA050677 NM_001318831.2:c.3487G>A