ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829331832
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383808
ClinVar RCV Id:
RCV000424806
RCV001543673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Gly347Glu
CA16608261
NM_001587.4:c.1040G>A