Allele Registry

Canonical Allele Identifier: PA2825955219

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000536669

RCV004024017

ClinVar Variation:

466154

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Leu199Ser	CA375369705 NM_001162427.2:c.596T>C