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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:
PA2827964475
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2844926
ClinVar RCV Id:
RCV003652491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341827.1:p.Arg357Lys
CA026798
NM_001354898.2:c.1070G>A