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: PA104060

Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 193574

ClinVar RCV Id: RCV000442309 RCV000709815 RCV002516597 RCV003488422 RCV003462273

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000266.2:p.Ala368Val	CA239106 NM_000275.3:c.1103C>T