ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499246892
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1030712
ClinVar RCV Id:
RCV001332332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Arg172Lys
CA391361747
NM_001300984.2:c.515G>A