ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830179967
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194096
ClinVar RCV Id:
RCV000174378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570844.1:p.Pro364Leu
CA274972
NM_130831.2:c.1091C>T