ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826857139
Gene: OCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000513084
ClinVar Variation:
444337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Asn465Tyr
CA391359338
NM_001300984.2:c.1393A>T