Allele Registry

Canonical Allele Identifier: PA2827007063

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000471506

RCV001012244

RCV001564370

ClinVar Variation:

405944

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser477Asn	CA031083 NM_001318829.2:c.1430G>A