ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230924
Gene: RB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051248
ClinVar RCV Id:
RCV001359263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Asp41His
CA388250373
NM_000321.3:c.121G>C