ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827332755
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507244
ClinVar RCV Id:
RCV002009393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Lys507Glu
CA326119682
NM_001330209.2:c.1519A>G