ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA266169
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011608
RCV000059607
RCV000727111
ClinVar Variation:
10861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Arg318Cys
CA266168
NM_001587.4:c.952C>T