Allele Registry

Canonical Allele Identifier: PA2827015385

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000934634

RCV001022397

RCV001427433

ClinVar Variation:

207684

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Thr1218Ser	CA051006 NM_001318831.2:c.3653C>G CA394301849 NM_001318831.2:c.3652A>T