Canonical Allele Identifier: PA2827321851
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 373193
ClinVar RCV Id: RCV000414436 RCV001833498 RCV002523937 RCV002523938 RCV002502443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Glu939Lys
CA8057456
NM_001330538.2:c.2815G>A