ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829332123
Gene: OCRL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Ala741Thr
CA414628262
NM_001587.4:c.2221G>A