ClinGen Allele Registry
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Canonical Allele Identifier:
PA916052764
Gene: OPLAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
661332
ClinVar RCV Id:
RCV000818726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060040.1:p.Arg1173His
CA4931119
NM_017570.5:c.3518G>A