Canonical Allele Identifier: PA645420539
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 281715
ClinVar RCV Id: RCV000288725 RCV002519096 RCV003765588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro111Ser
CA10603953
NM_000329.3:c.331C>T