Allele Registry

Canonical Allele Identifier: PA2499231722

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001370144

ClinVar Variation:

1060682

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Glu757Gln	CA375359829 NM_000368.5:c.2269G>C