Allele Registry

Canonical Allele Identifier: PA658659902

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459472

ClinVar RCV:

RCV000543231

RCV001731763

RCV002323976

RCV003999223

ClinVar Variation:

466133

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr1119Ile	CA036612 NM_000368.5:c.3356C>T