Allele Registry

Canonical Allele Identifier: PA262240

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042127

RCV000226639

RCV002256018

ClinVar Variation:

48876

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Gly680Glu	CA005810 NM_000368.5:c.2039G>A