Allele Registry

Canonical Allele Identifier: PA2825957866

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000558171

RCV002258953

ClinVar Variation:

466121

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg1004Met	CA375367179 NM_001162427.2:c.3011G>T