Allele Registry

Canonical Allele Identifier: PA658801569

Gene: TSC1 HGNC NCBI

ClinVar Allele:

524442

ClinVar RCV:

RCV000642018

RCV002424445

RCV004003960

ClinVar Variation:

534452

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg908Gln	CA034413 NM_000368.5:c.2723G>A