Allele Registry

Canonical Allele Identifier: PA2828060301

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000469642

RCV002418418

RCV004001909

ClinVar Variation:

411280

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Asp554Asn	CA16612762 NM_001362177.1:c.1660G>A