Allele Registry

Canonical Allele Identifier: PA102450

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201683

RCV001853242

RCV002222442

ClinVar Variation:

217721

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Arg172Gln	CA277766 NM_153704.6:c.515G>A