ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183357
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193386
ClinVar RCV Id:
RCV000173452
RCV000723425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570849.2:p.Ala8Ser
CA274916
NM_130836.2:c.22G>T