Allele Registry

Canonical Allele Identifier: PA2825954604

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000470585

RCV002356698

ClinVar Variation:

411209

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Thr130Ile	CA037444 NM_001162426.2:c.389C>T