ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819767
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_065099.3:p.Ala960Pro
CA7089360
NM_020366.4:c.2878G>C