Canonical Allele Identifier: PA2499285998
Gene: RPGRIP1 HGNC NCBI
ClinVar RCV:
RCV001297032
ClinVar Variation:
1000843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065099.3:p.Arg112His
CA388858830
NM_020366.4:c.335G>A