Allele Registry

Canonical Allele Identifier: PA658659521

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000525964

RCV003153711

ClinVar Variation:

466158

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala283Val	CA375369249 NM_000368.5:c.848C>T