ClinGen Allele Registry
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Canonical Allele Identifier:
PA916046300
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000629578
RCV002060708
ClinVar Variation:
525504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354177.1:p.Pro377Ala
CA10385542
NM_001367248.1:c.1129C>G