ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580443526
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002667932
ClinVar Variation:
1948692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Ala107Glu
CA388858760
NM_020366.4:c.320C>A