ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828722987
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99824
ClinVar RCV Id:
RCV000086255
RCV001305369
RCV002225082
RCV002265604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364452.1:p.Glu605del
CA227926
NM_001377523.1:c.1813_1815del