ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573167752
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1445004
ClinVar RCV Id:
RCV001982688
RCV004527438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.His527Arg
CA340740585
NM_000329.3:c.1580A>G