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: PA098673

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_056375.2:p.Ser545Arg	CA223205 NM_015560.3:c.1635C>A CA10575554 NM_015560.3:c.1635C>G CA355790437 NM_015560.3:c.1633A>C