Allele Registry

Canonical Allele Identifier: PA2825573624

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203122

ClinVar RCV:

RCV000189986

RCV001083566

RCV002256101

RCV003996885

ClinVar Variation:

207720

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Ser554Leu	CA032083 NM_001114382.3:c.1661C>T