ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418378
Gene: RPGRIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065099.3:p.Pro585Ser
CA7089060
NM_020366.4:c.1753C>T