Allele Registry

Canonical Allele Identifier: PA915986693

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000574390

RCV000692073

RCV000762584

ClinVar Variation:

486585

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Pro231Leu	CA375371402 NM_001162426.2:c.692C>T