Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA277158

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211770

ClinVar RCV Id: RCV000193498 RCV001853098 RCV003468885

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Gly782Arg	CA277156 NM_000275.3:c.2344G>A CA391358571 NM_000275.3:c.2344G>C