Canonical Allele Identifier: PA2827321354
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 286978
ClinVar RCV Id: RCV000276180 RCV000325211 RCV000382161 RCV000725929 RCV001243651 RCV001271332 RCV004021214 RCV004529473 RCV002487244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Arg561His
CA8057737
NM_001330538.2:c.1682G>A