ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828731745
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420000
ClinVar RCV Id:
RCV001913948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364877.1:p.Pro292Leu
CA7089129
NM_001377948.1:c.875C>T