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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:
PA2827965532
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1787835
ClinVar RCV Id:
RCV002425928
RCV003742825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341827.1:p.Asp714Ala
CA16026188
NM_001354898.2:c.2141A>C