Allele Registry

Canonical Allele Identifier: PA279517

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

214275

ClinVar RCV:

RCV000201733

ClinVar Variation:

217716

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Thr163Ala	CA279514 NM_001142301.1:c.487A>G