ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453425
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392916
ClinVar RCV Id:
RCV000429127
RCV000984518
RCV002248661
RCV001851095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Val950Met
CA4808413
NM_153704.6:c.2848G>A