ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510270
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438161
ClinVar RCV Id:
RCV000504829
RCV001215982
RCV002230986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Glu800Lys
CA7089253
NM_020366.4:c.2398G>A