ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827332400
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002003485
RCV002492254
ClinVar Variation:
1486282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Gln25Arg
CA412331690
NM_001330209.2:c.74A>G