Canonical Allele Identifier: PA916052764
Gene: OPLAH HGNC NCBI
ClinVar RCV:
RCV000818726
ClinVar Variation:
661332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060040.1:p.Arg1173His
CA4931119
NM_017570.5:c.3518G>A