Canonical Allele Identifier: PA2499231232
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003017
ClinVar RCV Id: RCV001299519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ser511Asn
CA340741093
NM_000329.3:c.1532G>A