Allele Registry

Canonical Allele Identifier: PA2825955055

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000685265

RCV001024421

ClinVar Variation:

565653

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg139His	CA038150 NM_001162427.2:c.416G>A