Allele Registry

Canonical Allele Identifier: PA2828094311

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000934634

RCV001022397

RCV001427433

ClinVar Variation:

207684

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Thr1396Ser	CA051006 NM_001363528.2:c.4187C>G CA394301849 NM_001363528.2:c.4186A>T