ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830182567
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2994343
ClinVar RCV Id:
RCV003855982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570847.2:p.Ala954Val
CA355797860
NM_130834.2:c.2861C>T