Allele Registry

Canonical Allele Identifier: PA200870

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000174181

RCV000988094

RCV001356583

RCV001409831

RCV004539607

ClinVar Variation:

193945

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Thr279Ala	CA200867 NM_001142301.1:c.835A>G