ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501498
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235423
ClinVar RCV Id:
RCV000224232
RCV000253760
RCV001079549
RCV001120843
RCV001120842
RCV001120844
RCV001833234
RCV004529384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ile389Val
CA8057886
NM_015272.2:c.1165A>G