ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825122291
Gene: RB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2182687
ClinVar RCV Id:
RCV002610977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Ser565Pro
CA249282041
NM_000321.3:c.1693T>C