ClinGen Allele Registry
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Canonical Allele Identifier:
PA200870
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193945
ClinVar RCV Id:
RCV000174181
RCV000988094
RCV001409831
RCV001356583
RCV004539607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Thr279Ala
CA200867
NM_001142301.1:c.835A>G