ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828224435
Gene: RPGR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354175.1:p.Thr99Ile
CA412745374
NM_001367246.1:c.296C>T