ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573246072
Gene: CBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1476348
ClinVar RCV Id:
RCV001977909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005179.2:p.Gln414Glu
CA382913727
NM_005188.3:c.1240C>G