ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573229124
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507244
ClinVar RCV Id:
RCV002009393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Lys547Glu
CA326119682
NM_003611.3:c.1639A>G