ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828224002
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501957
ClinVar RCV Id:
RCV000592660
RCV001521129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354174.1:p.Asp381Val
CA10385532
NM_001367245.1:c.1142A>T