Allele Registry

Canonical Allele Identifier: PA645413470

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000428530

RCV001851042

ClinVar Variation:

379146

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Lys982Arg	CA16606315 NM_000368.5:c.2945A>G