ClinGen Allele Registry
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Canonical Allele Identifier:
PA114681
Gene: OCA2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000266.2:p.Arg419Gln
NM_000275.3:c.1256G>A