Canonical Allele Identifier: PA645420560
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 298023
ClinVar RCV Id: RCV000265981 RCV000321010 RCV003888702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gln228Pro
CA10611418
NM_000329.3:c.683A>C