Allele Registry

Canonical Allele Identifier: PA2825954420

Gene: TSC1 HGNC NCBI

ClinVar Allele:

202465

ClinVar RCV:

RCV000189859

RCV001018741

RCV001080753

RCV001818461

ClinVar Variation:

207640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Ser1041Ile	CA035967 NM_001162426.2:c.3122G>T