Allele Registry

Canonical Allele Identifier: PA2827001684

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644256

RCV001012959

RCV001705065

RCV003996865

ClinVar Variation:

207663

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr547Met	CA033300 NM_001318827.2:c.1640C>T