ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826934215
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423510
ClinVar RCV Id:
RCV000765296
RCV000862031
RCV001696865
RCV004535531
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295263.1:p.Leu554Ile
CA8057740
NM_001308334.3:c.1660C>A