ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827333019
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000192398
RCV001223911
RCV002485287
RCV004020331
ClinVar Variation:
211787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317138.1:p.Ser822Ala
CA205192
NM_001330209.2:c.2464T>G