ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200871
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_714915.3:p.Thr360Ala
CA200867
NM_153704.6:c.1078A>G