Allele Registry

Canonical Allele Identifier: PA915986989

Gene: TSC1 HGNC NCBI

ClinVar Allele:

202492

ClinVar RCV:

RCV000189809

RCV000228527

RCV002399706

RCV003996851

ClinVar Variation:

207607

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Val352Ile	CA319235 NM_001162426.2:c.1054G>A