ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741931004
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2606117
ClinVar RCV Id:
RCV003352487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ala1316Thr
CA370980773
NM_006269.2:c.3946G>A