ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825122728
Gene: RB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2678280
ClinVar RCV Id:
RCV003463480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Ile831Met
CA388168109
NM_000321.3:c.2493C>G