ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828722939
Gene: RPGRIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364452.1:p.Arg517Trp
CA7089555
NM_001377523.1:c.1549C>T