ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092366
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98895
ClinVar RCV Id:
RCV000085226
RCV002226457
RCV004527320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Val287Phe
CA226585
NM_000329.3:c.859G>T