ClinGen Allele Registry
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Canonical Allele Identifier:
PA916019077
Gene: OCA2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001287913.1:p.Arg305Trp
NM_001300984.2:c.912_913delinsTT
NM_001300984.2:c.913C>T