ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828731837
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438161
ClinVar RCV Id:
RCV000504829
RCV001215982
RCV002230986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364877.1:p.Glu442Lys
CA7089253
NM_001377948.1:c.1324G>A