ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827332518
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430297
ClinVar RCV Id:
RCV000493480
RCV003152713
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Asp181del
CA645369802
NM_001330209.2:c.541_543del