Allele Registry

Canonical Allele Identifier: PA2828060050

Gene: TSC1 HGNC NCBI

ClinVar Allele:

311511

ClinVar RCV:

RCV000267953

RCV000360120

RCV000546659

RCV001810867

RCV002402089

ClinVar Variation:

365517

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Thr461Ile	CA10629362 NM_001362177.1:c.1382C>T