Allele Registry

Canonical Allele Identifier: PA2825957530

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524442

ClinVar RCV:

RCV000642018

RCV002424445

RCV004003960

ClinVar Variation:

534452

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg857Gln	CA034413 NM_001162427.2:c.2570G>A