Allele Registry

Canonical Allele Identifier: PA915986946

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000054930

RCV000215128

RCV000465854

ClinVar Variation:

64748

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Arg336Gln	CA004301 NM_001162426.2:c.1007G>A