ClinGen Allele Registry
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Canonical Allele Identifier:
PA092022
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104730
ClinVar RCV:
RCV000085166
RCV000701390
RCV001250676
RCV001257816
RCV001275338
RCV001808321
RCV004528783
ClinVar Variation:
98840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Arg44Gln
CA226506
NM_000329.3:c.131G>A