ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827321684
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500284
ClinVar RCV Id:
RCV000598116
RCV002532520
RCV004530701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317467.1:p.Leu809Val
CA8057545
NM_001330538.2:c.2425C>G