ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829331672
Gene: OCRL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001578.2:p.Ser143Phe
CA10512018
NM_001587.4:c.428C>T