Allele Registry

Canonical Allele Identifier: PA2828061373

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000054927

RCV000831184

RCV001020306

RCV001084718

RCV003398644

ClinVar Variation:

64745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Asp1025Tyr	CA007378 NM_001362177.1:c.3073G>T