ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828722820
Gene: RPGRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534365
ClinVar RCV Id:
RCV000641903
RCV001114650
RCV001113279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364452.1:p.Ala286Pro
CA7089360
NM_001377523.1:c.856G>C