ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104154
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
961
ClinVar RCV Id:
RCV000001012
RCV000413429
RCV000762940
RCV003466774
RCV003421891
RCV003492280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Asn489Asp
CA251640
NM_000275.3:c.1465A>G