ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202243
Gene: RPGR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
106437
ClinVar RCV:
RCV000086937
RCV000177042
RCV000474670
RCV002498471
ClinVar Variation:
100560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001030025.1:p.Ile75Val
CA202241
NM_001034853.2:c.223A>G