Allele Registry

Canonical Allele Identifier: PA645453425

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

370404

ClinVar RCV:

RCV000429127

RCV000984518

RCV001851095

RCV002248661

ClinVar Variation:

392916

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Val950Met	CA4808413 NM_153704.6:c.2848G>A