ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285737
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081768
RCV000676692
RCV000987377
ClinVar Variation:
95727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Ser158Asn
CA285733
NM_130837.2:c.473G>A