ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097629
Gene: RPGRIP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1080
ClinVar RCV Id:
RCV000001135
RCV000201757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056087.2:p.Ser659Pro
CA210651
NM_015272.2:c.1975T>C