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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:
PA2827950362
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1787830
ClinVar RCV Id:
RCV002420102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341825.1:p.Asp757His
CA16026186
NM_001354896.2:c.2269G>C