Allele Registry

Canonical Allele Identifier: PA279465

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201657

ClinVar Variation:

217727

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Gly934Glu	CA279461 NM_153704.6:c.2801G>A