Canonical Allele Identifier: PA645501627
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319651
ClinVar RCV Id: RCV000304399 RCV000334324 RCV000400874 RCV004021662
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056087.2:p.Ser1060Phe
CA8057349
NM_015272.2:c.3179C>T