ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279285
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191355
ClinVar RCV Id:
RCV000201456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Phe227Val
CA279284
NM_006269.2:c.679T>G