ClinGen Allele Registry
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Canonical Allele Identifier:
PA916019070
Gene: OCA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Leu207_Leu212del
CA7439405
NM_001300984.2:c.619_636del