ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580140598
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2174812
ClinVar RCV Id:
RCV002588168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030025.1:p.Lys1106Arg
CA10385160
NM_001034853.2:c.3317A>G