Allele Registry

Canonical Allele Identifier: PA645413222

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000437432

RCV000565665

RCV000606212

RCV001085125

RCV001167779

RCV001269495

RCV003950339

ClinVar Variation:

377283

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ser530Thr	CA029137 NM_000368.5:c.1589G>C