ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658825931
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556104
ClinVar RCV Id:
RCV000672055
RCV001549804
RCV004527392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Phe252Ser
CA340745829
NM_000329.3:c.755T>C