Allele Registry

Canonical Allele Identifier: PA117319

Gene: TOR1A HGNC NCBI

ClinVar RCV:

RCV000005490

RCV000020122

RCV000178043

RCV001513759

RCV001659683

RCV002496268

ClinVar Variation:

5182

HGVS (amino-acid)	Matching Registered Transcripts
NP_000104.1:p.Asp216His	CA117318 NM_000113.3:c.646G>C