ClinGen Allele Registry
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Canonical Allele Identifier:
PA226518
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98848
ClinVar RCV Id:
RCV000085175
RCV001250703
RCV001826773
RCV001854497
RCV003764788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Gly484Asp
CA226517
NM_000329.3:c.1451G>A