ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828227745
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085129
RCV000990776
RCV001078829
RCV001844036
RCV003891584
ClinVar Variation:
98806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354180.1:p.Ile289Val
CA226452
NM_001367251.1:c.865A>G