Canonical Allele Identifier: PA277820
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 217725
ClinVar RCV Id: RCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV003997037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Arg360Cys
CA277817
NM_001142301.1:c.1078C>T