ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418327
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374686
ClinVar RCV Id:
RCV000415874
RCV001199770
RCV001359271
RCV001800663
RCV001800664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Val90Ile
CA16043847
NM_020366.4:c.268G>A