ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104736
Gene: OCRL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000267.2:p.Pro495Leu
CA414616301
NM_000276.4:c.1484C>T