ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934305
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
319661
ClinVar RCV Id:
RCV000300536
RCV000352999
RCV000402360
RCV000467631
RCV001271328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Glu654Lys
CA8057665
NM_001308334.3:c.1960G>A