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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:
PA2825633421
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657857
ClinVar RCV Id:
RCV000814557
RCV003653385
RCV002345861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120982.1:p.Gln1680Glu
CA040478
NM_001127510.3:c.5038C>G