ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826857060
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Arg395Gln
CA114680
NM_001300984.2:c.1184G>A