Allele Registry

Canonical Allele Identifier: PA279513

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201732

ClinVar Variation:

217719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Gln295Glu	CA279510 NM_001142301.1:c.883C>G