Allele Registry

Canonical Allele Identifier: PA915987447

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000531464

RCV003352915

ClinVar Variation:

466116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Pro972Leu	CA375367614 NM_001162427.2:c.2915C>T