ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825124373
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2051748
ClinVar RCV Id:
RCV002904911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000319.1:p.Pro392Leu
CA10385526
NM_000328.3:c.1175C>T