ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184181
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2872548
ClinVar RCV Id:
RCV003706907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Thr214Ala
CA355788231
NM_130837.2:c.640A>G