Canonical Allele Identifier: PA275424
Gene: OCA2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000266.2:p.Asn273_Trp274delinsLysVal
NM_000275.3:c.[819_820del;822_823insTC]

NM_000275.3:c.819_822delinsGGTC