Canonical Allele Identifier: PA2828732416
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283795
ClinVar RCV Id: RCV000325954 RCV000763912 RCV001111169 RCV001800646 RCV002282101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364879.1:p.Pro227Ser
CA7089060
NM_001377950.1:c.679C>T