ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826857291
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1460694
ClinVar RCV Id:
RCV001963381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Ile643Val
CA391361267
NM_001300984.2:c.1927A>G