ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683125
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
845735
ClinVar RCV Id:
RCV001048856
RCV003128258
RCV003467756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Gly775Asp
CA267845036
NM_000275.3:c.2324G>A