ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828224648
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98810
ClinVar RCV Id:
RCV000085133
RCV001854495
RCV003888465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354175.1:p.Cys302Tyr
CA226459
NM_001367246.1:c.905G>A