ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580190589
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2006195
ClinVar RCV Id:
RCV002825770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Pro162Leu
CA7439487
NM_001300984.2:c.485C>T