Canonical Allele Identifier: PA206390
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 212064
ClinVar RCV Id: RCV000193122 RCV000861107 RCV001120944 RCV001120942 RCV001120943 RCV001271340 RCV001699228 RCV004020339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Ile178Val
CA206389
NM_001127897.1:c.532A>G