Allele Registry

Canonical Allele Identifier: PA102504

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201732

ClinVar Variation:

217719

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Gln376Glu	CA279510 NM_153704.6:c.1126C>G