Canonical Allele Identifier: PA645501369
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319668
ClinVar RCV Id: RCV000310412 RCV000346684 RCV000398312 RCV000464407 RCV000765298 RCV001562186 RCV001828321 RCV004537804
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056087.2:p.Arg84Gln
CA8058159
NM_015272.2:c.251G>A