Allele Registry

Canonical Allele Identifier: PA658801468

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000642010

RCV001771876

RCV002406392

ClinVar Variation:

534444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr417Lys	CA375366761 NM_000368.5:c.1250C>A