ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139739810
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992033
ClinVar RCV Id:
RCV001280346
RCV002504411
RCV002542955
RCV004538557
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Arg535His
CA8057753
NM_015272.2:c.1604G>A