ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427187
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_003602.1:p.Asp181del
CA645369802
NM_003611.3:c.541_543del