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: PA2830180082

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 624038

ClinVar RCV Id: RCV000762130

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570844.1:p.Phe516Leu	CA355790483 NM_130831.2:c.1546T>C CA355790488 NM_130831.2:c.1548T>A CA355790489 NM_130831.2:c.1548T>G