ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934643
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
319651
ClinVar RCV Id:
RCV000304399
RCV000334324
RCV000400874
RCV004021662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Ser1060Phe
CA8057349
NM_001308334.3:c.3179C>T