ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827333688
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432769
ClinVar RCV Id:
RCV001982094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317139.1:p.Leu406Val
CA412343474
NM_001330210.2:c.1216C>G