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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100596
Gene: CBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13808
ClinVar RCV Id:
RCV000014819
RCV001268437
RCV001851859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005179.2:p.Lys382Glu
CA123486
NM_005188.3:c.1144A>G