Allele Registry

Canonical Allele Identifier: PA2829978762

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530210

ClinVar RCV:

RCV000644221

RCV001565707

RCV004004016

ClinVar Variation:

535973

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg1086His	CA394286758 NM_021055.3:c.3257G>A