ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827332750
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447888
ClinVar RCV Id:
RCV000517838
RCV000867745
RCV002527503
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Gln505Arg
CA10351857
NM_001330209.2:c.1514A>G