ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828732416
Gene: RPGRIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364879.1:p.Pro227Ser
CA7089060
NM_001377950.1:c.679C>T