Allele Registry

Canonical Allele Identifier: PA2828415147

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043177

RCV000478359

ClinVar Variation:

49910

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Asn1599His	CA021298 NM_001370404.1:c.4795A>C