ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827321656
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380527
ClinVar RCV Id:
RCV001892298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Ile794Val
CA8057557
NM_001330538.2:c.2380A>G