ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800244
Gene: RB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000632945
RCV001010249
RCV002307568
ClinVar Variation:
527916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Leu400Val
CA388161643
NM_000321.3:c.1198C>G