Allele Registry

Canonical Allele Identifier: PA2825956375

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459532

ClinVar RCV:

RCV000559070

RCV002298658

RCV002404458

ClinVar Variation:

466039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Pro534Ser	CA029621 NM_001162427.2:c.1600C>T