Allele Registry

Canonical Allele Identifier: PA2825954296

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000428530

RCV001851042

ClinVar Variation:

379146

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Lys981Arg	CA16606315 NM_001162426.2:c.2942A>G