Allele Registry

Canonical Allele Identifier: PA2825843385

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000429127

RCV000984518

RCV001851095

RCV002248661

ClinVar Variation:

392916

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Val869Met	CA4808413 NM_001142301.1:c.2605G>A