Canonical Allele Identifier: PA092013
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98836
ClinVar RCV Id: RCV000085162 RCV000327489 RCV000539372 RCV001096918 RCV001096917 RCV001273331 RCV003460768 RCV002490739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala434Val
CA226501
NM_000329.3:c.1301C>T