ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111066
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Ser494Phe
CA267890242
NM_000275.3:c.1481C>T