Allele Registry

Canonical Allele Identifier: PA2825957398

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000458622

RCV001016107

ClinVar Variation:

411270

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Asp821His	CA16612739 NM_001162427.2:c.2461G>C