Canonical Allele Identifier: PA114980
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383
ClinVar RCV Id: RCV000001452 RCV000001451 RCV000283682 RCV000234823 RCV000415055 RCV000479077 RCV000534533 RCV000623857 RCV000627004 RCV000763610 RCV001197497
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Cys534Arg
CA114977
NM_001142301.1:c.1600T>C