ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573167157
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362193
ClinVar RCV Id:
RCV001900059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Val467Ile
CA7439043
NM_000275.3:c.1399G>A