ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580336816
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2330469
ClinVar RCV Id:
RCV002930167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Ala1316Val
CA4751775
NM_006269.2:c.3947C>T