ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828226976
Gene: RPGR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Phe130Ser
CA412745161
NM_001367250.1:c.389T>C