ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279492
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217685
ClinVar RCV Id:
RCV000201699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Val93Phe
CA279491
NM_003611.3:c.277G>T