ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114540
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2027835
ClinVar RCV Id:
RCV002866816
RCV003130766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Val486Ile
CA340741513
NM_000329.3:c.1456G>A