ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102450
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217721
ClinVar RCV Id:
RCV000201683
RCV002222442
RCV001853242
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Arg172Gln
CA277766
NM_153704.6:c.515G>A