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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:
PA2828054464
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2452761
ClinVar RCV Id:
RCV003177535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341834.1:p.Phe613Ser
CA16026414
NM_001354905.2:c.1838T>C