Canonical Allele Identifier: PA2573229046
Gene: OFD1 HGNC NCBI
ClinVar RCV:
RCV001943188
ClinVar Variation:
1412399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003602.1:p.Asn75Asp
CA326106767
NM_003611.3:c.223A>G