Allele Registry

Canonical Allele Identifier: PA645413034

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000468501

RCV000491924

RCV001703752

RCV003942369

RCV004000387

ClinVar Variation:

382942

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg37His	CA027051 NM_000368.5:c.110G>A