ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804819
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Ala334Thr
CA391364893
NM_000275.3:c.1000G>A