ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826934041
Gene: RPGRIP1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Arg321His
CA8057968
NM_001308334.3:c.962G>A