ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139696594
Gene: OFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317139.1:p.Leu60Pro
CA412337274
NM_001330210.2:c.179T>C