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: PA320570

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214902

ClinVar RCV Id: RCV000196148

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056375.2:p.Val294Phe	CA320567 NM_015560.3:c.880G>T