Canonical Allele Identifier: PA1139676421
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 990166
ClinVar RCV Id: RCV001278133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Val485Ala
CA340741524
NM_000329.3:c.1454T>C