Canonical Allele Identifier: PA2580114512
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718699
ClinVar RCV Id: RCV002301607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro412Ser
CA340742878
NM_000329.3:c.1234C>T