ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199242
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1407400
ClinVar RCV Id:
RCV001918423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305713.1:p.Ala530Thr
CA414616555
NM_001318784.2:c.1588G>A