Canonical Allele Identifier: PA2826934234
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 235333
ClinVar RCV Id: RCV000224936 RCV000272739 RCV000321854 RCV000364967 RCV001280344 RCV001854774 RCV002500747 RCV002519757 RCV004529383
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295263.1:p.Tyr579Cys
CA8057711
NM_001308334.3:c.1736A>G