Canonical Allele Identifier: PA2825662324
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319647
ClinVar RCV Id: RCV000284914 RCV000321256 RCV000385189 RCV002504091 RCV000820913 RCV001276306 RCV003278765
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121369.1:p.Phe1200Ser
CA8057138
NM_001127897.1:c.3599T>C