Canonical Allele Identifier: PA251695
Gene: RPGRIP1L HGNC NCBI
ClinVar RCV:
RCV000001126
ClinVar Variation:
1071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Ala695Pro
CA251694
NM_001127897.1:c.2083G>C