ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826857117
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2018331
ClinVar RCV Id:
RCV002861944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Ile449Asn
CA267890284
NM_001300984.2:c.1346T>A