Allele Registry

Canonical Allele Identifier: PA915986812

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000525964

RCV003153711

ClinVar Variation:

466158

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Ala283Val	CA375369249 NM_001162426.2:c.848C>T