ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864701
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
592034
ClinVar RCV Id:
RCV000723218
RCV001862128
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Ser76Phe
CA412333388
NM_003611.3:c.227C>T