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: PA2830180965

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425319

ClinVar RCV Id: RCV000488050

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570845.1:p.Gln767Arg	CA16621812 NM_130832.2:c.2300A>G