ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934552
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414436
RCV001833498
RCV002502443
RCV002523937
RCV002523938
ClinVar Variation:
373193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Glu939Lys
CA8057456
NM_001308334.3:c.2815G>A