Allele Registry

Canonical Allele Identifier: PA2825439643

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000516657

RCV000529988

RCV001023876

RCV001572599

RCV004003590

ClinVar Variation:

448738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1697Asn	CA276759923 NM_001077183.3:c.5090G>A