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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:
PA2828017058
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2746817
ClinVar RCV Id:
RCV003536583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341835.1:p.Tyr454Phe
CA16026174
NM_001354906.2:c.1361A>T