ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827333488
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436106
ClinVar RCV Id:
RCV000500732
RCV002056861
RCV004023391
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317139.1:p.Leu228Val
CA10351747
NM_001330210.2:c.682C>G