ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800436
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522906
ClinVar RCV Id:
RCV000626100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Asp186Asn
CA340747108
NM_000329.3:c.556G>A