Allele Registry

Canonical Allele Identifier: PA916023381

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230966

RCV000568549

RCV001118951

RCV001721235

ClinVar Variation:

207711

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu377Lys	CA028150 NM_001318832.2:c.1129G>A