ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380110
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429697
ClinVar RCV Id:
RCV000493655
RCV000762937
RCV002470881
RCV003470613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Cys777Tyr
CA7438634
NM_000275.3:c.2330G>A