Allele Registry

Canonical Allele Identifier: PA916023226

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58374

ClinVar RCV:

RCV000042470

RCV000055051

RCV000575144

RCV000589638

RCV001084150

RCV001729369

ClinVar Variation:

49212

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ala95Val	CA017545 NM_001318832.2:c.284C>T