Allele Registry

Canonical Allele Identifier: PA916043241

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042314

RCV002266912

ClinVar Variation:

49061

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Leu70Arg	CA007790 NM_001362177.1:c.209T>G