Canonical Allele Identifier: PA2828731876
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95948
ClinVar RCV Id: RCV000082000 RCV001111274 RCV001111273 RCV001002311 RCV001513784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364877.1:p.Arg494Gln
CA223562
NM_001377948.1:c.1481G>A