ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827332647
Gene: OFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Lys382Glu
CA172892
NM_001330209.2:c.1144A>G