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: PA2830179995

Gene: OPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432190

ClinVar RCV Id: RCV000497888 RCV003984843

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570844.1:p.Leu398Pro	CA355789650 NM_130831.2:c.1193T>C