ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092189
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98874
ClinVar RCV Id:
RCV000085204
RCV001250687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.His182Asn
CA226558
NM_000329.3:c.544C>A