Allele Registry

Canonical Allele Identifier: PA2825955783

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000469111

RCV004022869

ClinVar Variation:

411231

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Pro417His	CA16612640 NM_001162426.2:c.1250C>A