ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022627
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68720
ClinVar RCV Id:
RCV000059601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305713.1:p.Pro527Leu
CA266162
NM_001318784.2:c.1580C>T