ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231192
Gene: RPGR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000319.1:p.Tyr718His
CA10385081
NM_000328.3:c.2152T>C