Canonical Allele Identifier: PA2825843157
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 530903
ClinVar RCV Id: RCV000636959 RCV001591420 RCV001779030 RCV003338698
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Arg468Cys
CA4808035
NM_001142301.1:c.1402C>T