ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830182167
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043607
RCV000081747
RCV000210748
RCV000677258
RCV001249638
RCV001267306
RCV003993775
RCV004537182
ClinVar Variation:
50866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570847.2:p.Ile400Met
CA143824
NM_130834.2:c.1200A>G