ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663693
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467826
ClinVar RCV Id:
RCV000553292
RCV002287424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Phe72Ser
CA340748948
NM_000329.3:c.215T>C