Canonical Allele Identifier: PA2827321841
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 212062
ClinVar RCV Id: RCV000194076 RCV000861106 RCV001117064 RCV001117062 RCV001117063 RCV001833139 RCV001698998 RCV002517128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Ile936Ser
CA207998
NM_001330538.2:c.2807T>G