Allele Registry

Canonical Allele Identifier: PA279464

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201657

ClinVar Variation:

217727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Gly853Glu	CA279461 NM_001142301.1:c.2558G>A