ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828227122
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010576
RCV000085116
ClinVar Variation:
9898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354179.1:p.Pro234Ser
CA226435
NM_001367250.1:c.700C>T