ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683048
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
886067
ClinVar RCV Id:
RCV001118036
RCV002069906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Pro766Thr
CA7438650
NM_000275.3:c.2296C>A