ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA205193
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_003602.1:p.Ser862Ala
CA205192
NM_003611.3:c.2584T>G