Allele Registry

Canonical Allele Identifier: PA102721

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000001436

RCV000001437

RCV001851544

ClinVar Variation:

1371

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Tyr513Cys	CA210653 NM_153704.6:c.1538A>G