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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:
PA2825015574
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
656514
ClinVar RCV Id:
RCV003653381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000029.2:p.Leu548Met
CA16024894
NM_000038.6:c.1642T>A