ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829331989
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384439
ClinVar RCV Id:
RCV000434372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.His524Tyr
CA16608732
NM_001587.4:c.1570C>T