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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:
PA2826087917
Gene: ZEB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
507959
ClinVar RCV Id:
RCV000603922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165124.1:p.Leu1127Pro
CA348699271
NM_001171653.2:c.3380T>C