ClinGen Allele Registry
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Canonical Allele Identifier:
PA092044
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104747
ClinVar RCV:
RCV000085186
RCV001061074
RCV001275336
RCV001731373
RCV002247485
RCV003242980
RCV003764791
ClinVar Variation:
98857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Arg91Gln
CA226533
NM_000329.3:c.272G>A