ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829332053
Gene: OCRL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Asn592Ile
CA335707330
NM_001587.4:c.1775A>T