ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827332420
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217687
ClinVar RCV Id:
RCV000201618
RCV001307208
RCV002307444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.His50Arg
CA279419
NM_001330209.2:c.149A>G