ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830181145
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214889
ClinVar RCV Id:
RCV000200222
RCV002261006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570846.1:p.Pro69Ala
CA324780
NM_130833.2:c.205C>G