Allele Registry

Canonical Allele Identifier: PA3057575720

Gene: TOR1A HGNC NCBI

ClinVar RCV:

RCV000005489

RCV000020124

ClinVar Variation:

5181

HGVS (amino-acid)	Matching Registered Transcripts
NP_000104.1:p.Phe323_Tyr328del	CA117315 NM_000113.3:c.966_983del