Allele Registry

Canonical Allele Identifier: PA645413295

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000469642

RCV002418418

RCV004001909

ClinVar Variation:

411280

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asp675Asn	CA16612762 NM_000368.5:c.2023G>A