ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825661595
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2102804
ClinVar RCV Id:
RCV003037788
RCV003320908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121369.1:p.Leu248del
CA622268089
NM_001127897.1:c.743_745del