Canonical Allele Identifier: PA2827332383
Gene: OFD1 HGNC NCBI
ClinVar RCV:
RCV003014749
ClinVar Variation:
2104704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Val10Leu
CA412331290
NM_001330209.2:c.28G>C
CA412331291
NM_001330209.2:c.28G>T