Allele Registry

Canonical Allele Identifier: PA1139689129

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001216133

ClinVar Variation:

945482

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Met224Thr	CA375371508 NM_001162426.2:c.671T>C