Allele Registry

Canonical Allele Identifier: PA645413573

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000474187

RCV001020266

ClinVar Variation:

411284

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro1142Ala	CA16612438 NM_000368.5:c.3424C>G