ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819734
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498002
ClinVar RCV Id:
RCV000598475
RCV001087237
RCV001800819
RCV001800820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Pro25Leu
CA7088535
NM_020366.4:c.74C>T