ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573273147
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506338
ClinVar RCV Id:
RCV002035963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Glu99Gln
CA388858637
NM_020366.4:c.295G>C