Canonical Allele Identifier: PA144433
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 56762
ClinVar RCV Id: RCV000050175 RCV000114240 RCV000201777 RCV000560903 RCV000778866 RCV001267954 RCV002477175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Leu268Ser
CA144430
NM_001142301.1:c.803T>C