ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826857386
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1460031
ClinVar RCV Id:
RCV001963223
RCV002569152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Gly751Arg
CA391359924
NM_001300984.2:c.2251G>C