Canonical Allele Identifier: PA279348
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 217726
ClinVar RCV Id: RCV000201528 RCV000419395 RCV000636949 RCV002478718
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Thr291Lys
CA279345
NM_001142301.1:c.872C>A