Allele Registry

Canonical Allele Identifier: PA2828417944

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473625

RCV000570501

ClinVar Variation:

406001

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Asp635Asn	CA16615059 NM_001370405.1:c.1903G>A