Canonical Allele Identifier: PA114971
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377
ClinVar RCV Id: RCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064
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Amino-acid Alleles

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