ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139676418
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
813222
ClinVar RCV Id:
RCV001199757
RCV004527406
RCV003769401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Gly484Val
CA902151
NM_000329.3:c.1451G>T