Canonical Allele Identifier: PA2573273147
Gene: RPGRIP1 HGNC NCBI
ClinVar RCV:
RCV002035963
ClinVar Variation:
1506338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065099.3:p.Glu99Gln
CA388858637
NM_020366.4:c.295G>C