ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172900
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159472
ClinVar RCV Id:
RCV000146985
RCV000477252
RCV001689688
RCV004019775
RCV002492533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Lys888Thr
CA172899
NM_003611.3:c.2663A>C