ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111491
Gene: RP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10546
ClinVar RCV Id:
RCV001215347
RCV001075110
RCV000011292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008846.2:p.Arg118His
CA255301
NM_006915.3:c.353G>A