Allele Registry

Canonical Allele Identifier: PA2827010095

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043177

RCV000478359

ClinVar Variation:

49910

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Asn1528His	CA021298 NM_001318829.2:c.4582A>C