ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418378
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283795
ClinVar RCV Id:
RCV000325954
RCV000763912
RCV001111169
RCV001800646
RCV002282101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Pro585Ser
CA7089060
NM_020366.4:c.1753C>T