ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829331943
Gene: OCRL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Arg493Gln
CA414616269
NM_001587.4:c.1478G>A