Allele Registry

Canonical Allele Identifier: PA279408

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201610

RCV001804937

ClinVar Variation:

217723

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Gln760Pro	CA279405 NM_001142301.1:c.2279A>C