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: PA2827914066

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30461

ClinVar RCV Id: RCV000023415 RCV000508898 RCV001659726 RCV002464072

ClinVar Variation Id: 95712

ClinVar RCV Id: RCV000175211 RCV004529860

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341592.1:p.Ser422Arg	CA223205 NM_001354663.2:c.1266C>A CA10575554 NM_001354663.2:c.1266C>G CA355790437 NM_001354663.2:c.1264A>C