Canonical Allele Identifier: PA2828732520
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100589
ClinVar RCV Id: RCV000086972 RCV001059148 RCV001111368 RCV001111369 RCV002281926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364879.1:p.Ile446Val
CA228928
NM_001377950.1:c.1336A>G