Allele Registry

Canonical Allele Identifier: PA2825842990

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

458103

ClinVar RCV:

RCV000542172

RCV002245001

RCV002476130

RCV003488671

ClinVar Variation:

461772

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Arg132His	CA4807723 NM_001142301.1:c.395G>A