ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139738341
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001051418
ClinVar Variation:
847799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Glu55Lys
CA7088585
NM_020366.4:c.163G>A