Allele Registry

Canonical Allele Identifier: PA645452742

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000373992

RCV000622377

RCV001859598

ClinVar Variation:

284277

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Glu124Lys	CA10604744 NM_153704.6:c.370G>A