Allele Registry

Canonical Allele Identifier: PA2825917943

Gene: TSC1 HGNC NCBI

ClinVar Allele:

397209

ClinVar RCV:

RCV000475896

RCV001012341

RCV001770354

RCV004001891

ClinVar Variation:

411218

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Asn531Tyr	CA029180 NM_001162426.2:c.1591A>T