ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916046302
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501957
ClinVar RCV Id:
RCV000592660
RCV001521129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354177.1:p.Asp392Val
CA10385532
NM_001367248.1:c.1175A>T