ClinGen Allele Registry
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Canonical Allele Identifier:
PA285742
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
101626
ClinVar RCV:
RCV000081770
RCV000363524
RCV000676693
ClinVar Variation:
95729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056375.2:p.Ala192Val
CA285739
NM_015560.3:c.575C>T