Allele Registry

Canonical Allele Identifier: PA2825957623

Gene: TSC1 HGNC NCBI

ClinVar Allele:

397141

ClinVar RCV:

RCV000466864

RCV002436452

ClinVar Variation:

411268

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Val894Ile	CA034261 NM_001162426.2:c.2680G>A