Canonical Allele Identifier: PA2827320740
Gene: RPGRIP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 319670
ClinVar RCV Id: RCV000262935 RCV000298218 RCV000353091 RCV000489212 RCV001081628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317467.1:p.Leu57Phe
CA8058197
NM_001330538.2:c.171G>T
CA395925933
NM_001330538.2:c.171G>C