Canonical Allele Identifier: PA092031
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13120
ClinVar RCV Id: RCV000816506 RCV001826461 RCV003887868 RCV003764565 RCV000013999 RCV000014000 RCV000085176 RCV000132583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg515Trp
CA226519
NM_000329.3:c.1543C>T