Allele Registry

Canonical Allele Identifier: PA645413139

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000231351

RCV001017933

RCV001575957

RCV003407768

ClinVar Variation:

237729

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg284Cys	CA039166 NM_000368.5:c.850C>T