ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105375
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99814
ClinVar RCV Id:
RCV000086244
RCV001261183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Gly746Glu
CA227910
NM_020366.4:c.2237G>A