Allele Registry

Canonical Allele Identifier: PA2825957765

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000226388

RCV000573300

RCV001169544

RCV001536549

RCV003998776

ClinVar Variation:

237714

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Glu939Lys	CA035148 NM_001162427.2:c.2815G>A