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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:
PA334328
Gene: APC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188207
ClinVar RCV Id:
RCV000168132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120982.1:p.Ser906Ala
CA007751
NM_001127510.3:c.2716T>G