ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461319
Gene: RPGR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425491
ClinVar RCV Id:
RCV000487612
RCV001075427
RCV001199550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000319.1:p.Leu100Pro
CA16621889
NM_000328.3:c.299T>C