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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:
PA2827965529
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
566805
ClinVar RCV Id:
RCV001014809
RCV003534565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341827.1:p.Lys713Arg
CA16026181
NM_001354898.2:c.2138A>G