Allele Registry

Canonical Allele Identifier: PA915986644

Gene: TSC1 HGNC NCBI

ClinVar Allele:

441321

ClinVar RCV:

RCV000517515

RCV000537301

RCV001020229

ClinVar Variation:

448716

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Pro114Ser	CA036801 NM_001162426.2:c.340C>T