Allele Registry

Canonical Allele Identifier: PA916023278

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043220

RCV000473187

RCV001024627

RCV001719786

RCV003153330

ClinVar Variation:

49953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ala207Thr	CA022594 NM_001318832.2:c.619G>A