Canonical Allele Identifier: PA2828732750
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100589
ClinVar RCV Id: RCV000086972 RCV001059148 RCV001111368 RCV001111369 RCV002281926
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364880.1:p.Ile281Val
CA228928
NM_001377951.1:c.841A>G