Canonical Allele Identifier: PA2828226291
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 454517
ClinVar RCV Id: RCV000536819 RCV002464247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001354178.1:p.Gly250Asp
CA412742559
NM_001367249.1:c.749G>A