Canonical Allele Identifier: PA2827332438
Gene: OFD1 HGNC NCBI
ClinVar RCV:
RCV001943188
ClinVar Variation:
1412399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Asn75Asp
CA326106767
NM_001330209.2:c.223A>G