Canonical Allele Identifier: PA2827321330
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 970944
ClinVar RCV Id: RCV001246611 RCV001835274 RCV002484380 RCV002570345 RCV004538519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Arg535Cys
CA8057755
NM_001330538.2:c.1603C>T