Canonical Allele Identifier: PA2826934095
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 193717
ClinVar RCV Id: RCV000339807 RCV000307599 RCV000401583 RCV000697464 RCV000724780 RCV000765297 RCV001271337 RCV002516602 RCV004539604
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295263.1:p.Lys386Glu
CA239324
NM_001308334.3:c.1156A>G