Allele Registry

Canonical Allele Identifier: PA114971

Gene: TMEM67 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

16416

ClinVar RCV:

RCV000001444

RCV000234830

RCV000725926

RCV001085857

RCV001158404

RCV001158405

RCV001158406

RCV001198570

RCV001333012

RCV003488318

RCV004528064

ClinVar Variation:

1377

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135773.1:p.Ser239Cys	CA114968 NM_001142301.1:c.715A>T