ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092179
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000986326
ClinVar Variation:
801494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Gly528Val
CA340740566
NM_000329.3:c.1583G>T