ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092379
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13116
ClinVar RCV Id:
RCV000013995
RCV000085169
RCV001304649
RCV003114190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Val452Gly
CA226509
NM_000329.3:c.1355T>G