ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825661643
Gene: RPGRIP1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
268166
ClinVar RCV:
RCV000375576
RCV001117358
RCV001117359
RCV001117360
RCV001241000
RCV001833330
RCV002487213
RCV004017583
RCV004535307
ClinVar Variation:
283929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121369.1:p.Arg321His
CA8057968
NM_001127897.1:c.962G>A