Allele Registry

Canonical Allele Identifier: PA645413476

Gene: TSC1 HGNC NCBI

ClinVar Allele:

240477

ClinVar RCV:

RCV000226388

RCV000573300

RCV001169544

RCV001536549

RCV003998776

ClinVar Variation:

237714

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Glu990Lys	CA035148 NM_000368.5:c.2968G>A