ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027873
Gene: OFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317139.1:p.Arg50His
CA10351646
NM_001330210.2:c.149G>A