Canonical Allele Identifier: PA2580114544
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1977498
ClinVar RCV Id: RCV002750751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Lys508Asn
CA23562561
NM_000329.3:c.1524G>C
CA340741133
NM_000329.3:c.1524G>T