Canonical Allele Identifier: PA2827332966
Gene: OFD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Pro751Leu
CA10351984
NM_001330209.2:c.2252C>T
CA645601557
NM_001330209.2:c.2251_2252delinsTT