ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104128
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Arg720Cys
CA7438721
NM_000275.3:c.2158C>T