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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:
PA2825628070
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2624857
ClinVar RCV Id:
RCV003387078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120982.1:p.Lys738Gln
CA16026177
NM_001127510.3:c.2212A>C