Allele Registry

Canonical Allele Identifier: PA2825918345

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042131

RCV002415489

ClinVar Variation:

48880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Gly680Ser	CA005830 NM_001162426.2:c.2038G>A