ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828227383
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2809107
ClinVar RCV Id:
RCV003647663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Arg412Lys
CA412739721
NM_001367250.1:c.1235G>A