ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827332873
Gene: OFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Pro647Leu
CA10351924
NM_001330209.2:c.1940C>T