ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139696555
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430297
ClinVar RCV Id:
RCV000493480
RCV003152713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317139.1:p.Asp41del
CA645369802
NM_001330210.2:c.121_123del