Allele Registry

Canonical Allele Identifier: PA2828421758

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000516657

RCV000529988

RCV001023876

RCV001572599

RCV004003590

ClinVar Variation:

448738

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ser1717Asn	CA276759923 NM_001370405.1:c.5150G>A