×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830182091
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214902
ClinVar RCV Id:
RCV000196148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570847.2:p.Val312Phe
CA320567
NM_130834.2:c.934G>T