Canonical Allele Identifier: PA2827322226
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319647
ClinVar RCV Id: RCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Phe1246Ser
CA8057138
NM_001330538.2:c.3737T>C