ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247054
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Arg243Cys
CA247053
NM_000275.3:c.727C>T