ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA205292
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211785
ClinVar RCV Id:
RCV000192458
RCV002054273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Glu490Gly
CA205291
NM_003611.3:c.1469A>G