Allele Registry

Canonical Allele Identifier: PA2825956437

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459532

ClinVar RCV:

RCV000559070

RCV002298658

RCV002404458

ClinVar Variation:

466039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Pro584Ser	CA029621 NM_001162426.2:c.1750C>T