Allele Registry

Canonical Allele Identifier: PA279414

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

214276

ClinVar RCV:

RCV000201614

RCV002500631

RCV002517316

ClinVar Variation:

217710

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Met176Val	CA279411 NM_001142301.1:c.526A>G