Allele Registry

Canonical Allele Identifier: PA2827004611

Gene: TSC2 HGNC NCBI

ClinVar Allele:

426155

ClinVar RCV:

RCV000497607

RCV001022632

RCV001078813

ClinVar Variation:

432500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1404Phe	CA394302786 NM_001318827.2:c.4211C>T