ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA282048
Gene: CBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40422
ClinVar RCV Id:
RCV000033370
RCV000467413
RCV002504854
RCV004528151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005179.2:p.Val784Met
CA282046
NM_005188.3:c.2350G>A