Allele Registry

Canonical Allele Identifier: PA279474

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

214286

ClinVar RCV:

RCV000201665

ClinVar Variation:

217708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Phe556Leu	CA279471 NM_001142301.1:c.1668C>A CA371693285 NM_001142301.1:c.1666T>C CA371693291 NM_001142301.1:c.1668C>G