Allele Registry

Canonical Allele Identifier: PA102528

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201610

RCV001804937

ClinVar Variation:

217723

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Gln841Pro	CA279405 NM_153704.6:c.2522A>C