Canonical Allele Identifier: PA2828731769
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194421
ClinVar RCV Id: RCV000174787 RCV001037544 RCV001800510 RCV001800511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364877.1:p.His334Arg
CA240362
NM_001377948.1:c.1001A>G